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<ul id="toc-Symptoms_and_signs-sublist" class="vector-toc-list"> <li id="toc-Phenotypic_variability" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Phenotypic_variability"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.1</span> <span>Phenotypic variability</span> </div> </a> <ul id="toc-Phenotypic_variability-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-The_warm-up_phenomenon" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#The_warm-up_phenomenon"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.2</span> <span>The warm-up phenomenon</span> </div> </a> <ul id="toc-The_warm-up_phenomenon-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Causes" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Causes"> <div class="vector-toc-text"> <span class="vector-toc-numb">2</span> <span>Causes</span> 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class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Myotonia_congenita" title="Myotonia congenita – Bosnian" lang="bs" hreflang="bs" data-title="Myotonia congenita" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Myotonia_congenita_Thomsen" title="Myotonia congenita Thomsen – German" lang="de" hreflang="de" data-title="Myotonia congenita Thomsen" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Mioton%C3%ADa_cong%C3%A9nita" title="Miotonía congénita – Spanish" lang="es" hreflang="es" data-title="Miotonía congénita" data-language-autonym="Español" data-language-local-name="Spanish" 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<div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><p class="mw-empty-elt"> </p> <div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Genetic disorder causing muscles to delay relaxing after contraction</div> <div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc"><i>Myotonia congenita</i></th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Congenital myotonia, Thomsen syndrome, Becker syndrome</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Neurology" title="Neurology">Neurology</a> <span class="penicon autoconfirmed-show"><span class="mw-valign-text-top" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q587420?uselang=en#P1995" title="Edit this on Wikidata"><img alt="Edit this on Wikidata" src="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/10px-OOjs_UI_icon_edit-ltr-progressive.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/15px-OOjs_UI_icon_edit-ltr-progressive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/20px-OOjs_UI_icon_edit-ltr-progressive.svg.png 2x" data-file-width="20" data-file-height="20" /></a></span></span></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Signs_and_symptoms" title="Signs and symptoms">Symptoms</a></th><td class="infobox-data"><a href="/wiki/Myotonia" title="Myotonia">Delayed relaxation of muscles</a>, falls, <a href="/wiki/Dysphagia" title="Dysphagia">difficulty swallowing</a></td></tr><tr><th scope="row" class="infobox-label">Usual onset</th><td class="infobox-data">Childhood</td></tr><tr><th scope="row" class="infobox-label">Types</th><td class="infobox-data">Autosomal dominant (Thomsen disease), autosomal recessive (Becker disease)</td></tr><tr><th scope="row" class="infobox-label">Causes</th><td class="infobox-data">Genetic, <a href="/wiki/CLCN1" title="CLCN1">CLCN1</a> mutations</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_diagnosis" title="Medical diagnosis">Diagnostic method</a></th><td class="infobox-data">Clinical, genetic testing</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Differential_diagnosis" title="Differential diagnosis">Differential diagnosis</a></th><td class="infobox-data"><a href="/wiki/Myotonic_dystrophy" title="Myotonic dystrophy">Myotonic dystrophy</a>, <a href="/wiki/Paramyotonia_congenita" title="Paramyotonia congenita">Paramyotonia congenita</a></td></tr><tr><th scope="row" class="infobox-label">Treatment</th><td class="infobox-data">Physiotherapy, medication</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medication" title="Medication">Medication</a></th><td class="infobox-data"><a href="/wiki/Quinine" title="Quinine">quinine</a>, <a href="/wiki/Phenytoin" title="Phenytoin">phenytoin</a>, <a href="/wiki/Carbamazepine" title="Carbamazepine">carbamazepine</a>, <a href="/wiki/Mexiletine" title="Mexiletine">mexiletine</a></td></tr><tr><th scope="row" class="infobox-label">Frequency</th><td class="infobox-data">1 in 10,000 (Finland) - 1 in 100,000 (worldwide)</td></tr></tbody></table> <p><i><b>Myotonia congenita</b></i> is a <a href="/wiki/Congenital_disorder" class="mw-redirect" title="Congenital disorder">congenital</a> neuromuscular <a href="/wiki/Channelopathy" title="Channelopathy">channelopathy</a> that affects <a href="/wiki/Skeletal_muscles" class="mw-redirect" title="Skeletal muscles">skeletal muscles</a> (muscles used for movement). It is a <a href="/wiki/Genetic_disorder" title="Genetic disorder">genetic disorder</a>. The hallmark of the disease is the failure of initiated <a href="/wiki/Muscle_contraction" title="Muscle contraction">contraction</a> to terminate, often referred to as delayed relaxation of the muscles (<a href="/wiki/Myotonia" title="Myotonia">myotonia</a>) and <a href="/wiki/Hypokinesia" title="Hypokinesia">rigidity</a>.<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Symptoms include delayed relaxation of the muscles after voluntary contraction (myotonia), and may also include stiffness, <a href="/wiki/Hypertrophy" title="Hypertrophy">hypertrophy</a> (enlargement), transient <a href="/wiki/Weakness" title="Weakness">weakness</a> in some forms of the disorder (from certain genetic mutations), severe <a href="/wiki/Masseter" class="mw-redirect" title="Masseter">masseter</a> spasm, and <a href="/wiki/Cramp" title="Cramp">cramping</a>. The condition is sometimes referred to as fainting goat syndrome, as it is responsible for the eponymous 'fainting' seen in <a href="/wiki/Fainting_goats" class="mw-redirect" title="Fainting goats">fainting goats</a> when presented with a sudden stimulus. Of note, <i>myotonia congenita</i> has no association with <a href="/wiki/Malignant_hyperthermia" title="Malignant hyperthermia">malignant hyperthermia</a> (MH). </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Symptoms_and_signs">Symptoms and signs</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Myotonia_congenita&action=edit&section=1" title="Edit section: Symptoms and signs"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The prolonged muscle contractions, which occur most commonly in the leg muscles in recessive mutations, and more commonly in the hands, face, and eyelids in dominant mutations,<sup id="cite_ref-Lossin_2008_25-55_2-0" class="reference"><a href="#cite_note-Lossin_2008_25-55-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> are often enhanced by inactivity, and in some forms are relieved by repetitive movement known as "the warm-up effect". This effect often diminishes quickly with rest. Some individuals with myotonia congenita are prone to falling as a result of hasty movements or an inability to stabilize themselves after a loss of balance. During a fall, a person with myotonia congenita may experience partial or complete rigid paralysis that will quickly resolve once the event is over. However, a fall into cold water may render the person unable to move for the duration of submergence. As with <a href="/wiki/Fainting_goats" class="mw-redirect" title="Fainting goats">myotonic goats</a>, children are more prone to falling than adults, due to their impulsivity.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>]</sup> </p><p>The two major types of myotonia congenita are distinguished by the severity of their symptoms and their patterns of inheritance. Becker disease usually appears later in childhood than Thomsen disease, and causes more severe myotonia, muscle stiffness and transient weakness.<sup id="cite_ref-Rüdel_1988_202-11_3-0" class="reference"><a href="#cite_note-Rüdel_1988_202-11-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> Although myotonia in itself is not normally associated with pain, cramps or myalgia may develop.<sup id="cite_ref-Rüdel_1988_202-11_3-1" class="reference"><a href="#cite_note-Rüdel_1988_202-11-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. They may also develop mild, permanent muscle weakness over time.<sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> This muscle weakness is not observed in people with Thomsen disease. However, in recent times, as more of the individual mutations that cause myotonia congenita are identified, these limited disease classifications are becoming less widely used.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>]</sup> </p><p>Early symptoms in a child may include:<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2020)">citation needed</span></a></i>]</sup> </p> <ul><li>Difficulty swallowing</li> <li>Gagging</li> <li>Stiff movements that improve when they are repeated</li> <li>Frequent falling</li> <li>Difficulties opening eyelids after strenuous contraction or crying (von Graefe's sign)<sup id="cite_ref-5" class="reference"><a href="#cite_note-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup></li></ul> <p>Possible complications may include:<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2020)">citation needed</span></a></i>]</sup> </p> <ul><li>Aspiration pneumonia (caused by swallowing difficulties)</li> <li>Frequent choking or gagging in infants (also caused by swallowing difficulties)</li> <li>Abdominal muscle weakness</li> <li>Chronic joint problems</li> <li>Injury due to falls</li></ul> <div class="mw-heading mw-heading3"><h3 id="Phenotypic_variability">Phenotypic variability</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Myotonia_congenita&action=edit&section=2" title="Edit section: Phenotypic variability"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Both Thomsen and Becker myotonia have high phenotype variability. Severity of symptoms can vary greatly between individuals and throughout the lives of the individuals themselves. This may be partly because there are over 130 currently known different mutations that can cause the disorder, each with their own specifics, and also because myotonia congenita is an ion channel disorder, and ion channels are sensitive to internal and external environmental factors. It has been shown that pregnancy<sup id="cite_ref-6" class="reference"><a href="#cite_note-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> and the use of diuretics<sup id="cite_ref-7" class="reference"><a href="#cite_note-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> aggravate myotonia, and both these conditions are linked to the loss of divalent cations such as <a href="/wiki/Magnesium" title="Magnesium">magnesium</a> and <a href="/wiki/Calcium" title="Calcium">calcium</a>.<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> It has further been shown that in chemically-induced myotonia in isolated rat muscle, myotonia could be dampened by increasing the magnesium and calcium content of the <a href="/wiki/Extracellular" class="mw-redirect" title="Extracellular">extracellular</a> medium.<sup id="cite_ref-9" class="reference"><a href="#cite_note-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> This has also been shown for isolated human muscle.<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> </p><p>Adrenaline/epinephrine is well known to make myotonia worse in most individuals with the disorder, and a person with myotonia congenita may experience a sudden increase in difficulty with mobility in a particularly stressful situation during which adrenaline is released.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2020)">citation needed</span></a></i>]</sup> </p><p>Due to the invisible nature of the disorder, the fact that those with myotonia congenita often appear very fit and able bodied, the general lack of knowledge about the disorder by the general and medical community, and often by the individual themselves, and the potential for inconsistency with the symptoms, many people with myotonia congenita have experienced a degree of social persecution at one time or another because of the effects of their disorder.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2020)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading3"><h3 id="The_warm-up_phenomenon">The warm-up phenomenon</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Myotonia_congenita&action=edit&section=3" title="Edit section: The warm-up phenomenon"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>This phenomenon was described along with the disease by Thomsen in 1876 but its <a href="/wiki/Etiology" title="Etiology">etiology</a> remains unclear.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2020)">citation needed</span></a></i>]</sup> </p><p>Patients report that myotonia congenita may present itself in the following ways (this is from first hand experience). If the person is sedentary and then decides to walk up a set of stairs, by the third or fourth step their leg muscles begin to stiffen significantly, requiring them to slow down almost to a complete stop. But as the muscles loosen up, a few steps later, they can once again begin to climb the steps at a normal pace. If this person plays any kind of a sport, a good warm-up is mandatory. Otherwise if they need to quickly and intensively use their muscles, such as in a sprint race or a basketball game, their muscles will freeze up, causing them to slow down or almost come to a complete stop. But once the muscles are warmed up, they can once again function normally. This can happen in various muscles, even in muscles such as the tongue. For example, if a person has not spoken for awhile and then wants to speak, their tongue may be stiff at first causing the words to come out a little garbled, but after a few seconds of trying to speak, the tongue muscle will loosen up and then they can speak normally for the remainder of the time that they are conversing.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>]</sup> </p><p>Patients report that repeated contraction of muscle alleviates present myotonia with each contraction, such that myotonia is almost absent after a few contractions of the same muscle. The effect lasts about five minutes.<sup id="cite_ref-11" class="reference"><a href="#cite_note-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> There have been several proposed mechanisms for this phenomenon, but none have been demonstrated conclusively; one hypothesis is that the <a href="/wiki/Na%2B/K%2B-ATPase" class="mw-redirect" title="Na+/K+-ATPase">Na+/K+-ATPase</a> is stimulated during the myotonic activity by increased <a href="/wiki/Intracellular" class="mw-redirect" title="Intracellular">intracellular</a> Na<sup>+</sup> in the cytosol of the muscle cell, increasing the activity of the Na+/K+-ATPase. However, in experiments with patients where the Na+/K+-ATPase had been blocked in the <a href="/wiki/Axilla" title="Axilla">underarm</a> by infusion of the Na+/K+-ATPase-blocker <a href="/wiki/Ouabain" title="Ouabain">Ouabain</a>, no effect on warm-up was observed.<sup id="cite_ref-12" class="reference"><a href="#cite_note-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> Another hypothesis states that the few remaining functional <a href="/wiki/Chloride_channels" class="mw-redirect" title="Chloride channels">chloride channels</a> in muscle may become more active with increased muscle activity.<sup id="cite_ref-13" class="reference"><a href="#cite_note-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> </p><p>It has been proposed that inactivation of <a href="/wiki/Nav1.4" title="Nav1.4">sodium channel protein type 4 subunit alpha</a>, residing in skeletal muscle, could play an important role in the warm-up phenomenon. In particular, slow inactivation of the channel is believed to have a spatial and temporal extent that is correlated to warm-up and therefore may provide a plausible cause.<sup id="cite_ref-14" class="reference"><a href="#cite_note-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Causes">Causes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Myotonia_congenita&action=edit&section=4" title="Edit section: Causes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The disorder is caused by mutations in part of a gene (<a href="/wiki/CLCN1" title="CLCN1">CLCN1</a>) encoding the ClC-1 <a href="/wiki/Chloride_channel" title="Chloride channel">chloride channel</a>, resulting in muscle fiber membranes having an unusually exaggerated response to stimulation (hyperexcitability).<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>]</sup> </p><p>Three cases have been reported who were diagnosed with Thomsen's myotonia and proved on genetic testing not to have mutations in the chloride gene but rather in the alpha-subunit of the voltage gated sodium channel (<a href="/wiki/SCN4A" class="mw-redirect" title="SCN4A">SCN4A</a>).<sup id="cite_ref-Trip2007_15-0" class="reference"><a href="#cite_note-Trip2007-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> Like chloride channel mutations, patients with sodium channel mutations may have a very varied phenotype, making a diagnosis more difficult.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2020)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Mechanisms">Mechanisms</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Myotonia_congenita&action=edit&section=5" title="Edit section: Mechanisms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Myotonia congenita is caused in humans by loss-of-function mutations in the gene <i><a href="/wiki/CLCN1" title="CLCN1">CLCN1</a></i>. This is the gene encoding the protein <a href="/wiki/CLCN1" title="CLCN1">CLCN1</a>, that forms the ClC-1 chloride channel, critical for the normal function of skeletal muscle cells. This gene is also associated with the condition in horses, goats, and dogs. In short, in lack of sufficient functional chloride channels, the muscle fiber membrane becomes hyper-excitable and continues to be electrically active (firing <a href="/wiki/Action_potentials" class="mw-redirect" title="Action potentials">action potentials</a>) when stimulated, for longer periods of time, than a normal muscle fiber. This results in prolonged contraction/delayed relaxation of the muscle.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>]</sup> </p><p>The dysfunctional Cl<sup>−</sup> channels are located in the muscle fiber membrane and do not affect the <a href="/wiki/Motor_nerve" title="Motor nerve">motor nerve</a> innervating the muscle. However, many studies have shown that denervation of muscle fibers alter the resting membrane conductance, but whether this affects myotonia in the muscle has been subject to heavy debate, and results from experiments are inconclusive.<sup id="cite_ref-Missingor_16-0" class="reference"><a href="#cite_note-Missingor-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p><p>In <a href="/wiki/Skeletal_muscle" title="Skeletal muscle">skeletal muscle</a> fibers, a large <a href="/wiki/Transverse_tubule" class="mw-redirect" title="Transverse tubule">transverse tubule</a> system with a high surface-area to volume ratio exists. The onset of skeletal muscle activity is associated with the initiation and propagation of <a href="/wiki/Action_potentials" class="mw-redirect" title="Action potentials">action potentials</a> again associated with an efflux of K<sup>+</sup> to the extracellular fluid and transverse tubule system. When many action potentials are elicited subsequently more K<sup>+</sup> is expelled from the cell into the transverse tubular system. As K<sup>+</sup> accumulates in the transverse tubular system the <a href="/wiki/Equilibrium_potential" class="mw-redirect" title="Equilibrium potential">equilibrium potential</a> for K<sup>+</sup> (E<sub>K<sup>+</sup></sub>) normally around -80 mV, becomes more depolarized (<a href="/wiki/Depolarization" title="Depolarization">depolarization</a>), according to the <a href="/wiki/Nernst_equation" title="Nernst equation">Nernst equation</a>. In skeletal muscle fibers the equilibrium potential for Cl<sup>−</sup> is around -80 mV, equal to that of K<sup>+</sup> at rest. Cl<sup>−</sup> moves towards its equilibrium potential around -80 mV, while potassium moves towards its equilibrium potential more depolarized than -80 mV during activity. This results in a slightly more depolarized <a href="/wiki/Membrane_potential" title="Membrane potential">membrane potential</a> of the fiber during repeated action potentials, see <a href="/wiki/Goldman_equation" title="Goldman equation">Goldman equation</a>. The Na<sup>+</sup> conductance is only elevated shortly compared to the K<sup>+</sup> conductance during each action potential, which is why K<sup>+</sup> largely determines the membrane potential (Cl<sup>−</sup> is passively distributed during rest). In the case of myotonia congenita, the chloride channels that allow Cl<sup>−</sup> to move across the membrane towards its equilibrium potential are defective, thus K<sup>+</sup> is the only ion determining the membrane potential, and as more and more K<sup>+</sup> accumulates in the transverse tubular system with each subsequent action potential the fiber depolarizes until the membrane potential comes close enough to the <a href="/wiki/Action_potential_threshold" class="mw-redirect" title="Action potential threshold">action potential threshold</a> for spontaneous activity to ensue<sup id="cite_ref-pmid1119960_17-0" class="reference"><a href="#cite_note-pmid1119960-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> Spontaneous action potentials can arise for several seconds, leading to the delayed relaxation that is the hallmark of myotonia. Cessation of spontaneous activity is associated with <a href="/wiki/Sodium_channel" title="Sodium channel">sodium channel</a> inactivation (Na<sub>v</sub>1.4).<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2020)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Myotonia_congenita&action=edit&section=6" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Types">Types</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Myotonia_congenita&action=edit&section=7" title="Edit section: Types"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Two types of myotonia congenita exist, an <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a> form and an <a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">autosomal recessive</a> form. Autosomal dominant myotonia congenita (<a href="/wiki/OMIM" class="mw-redirect" title="OMIM">OMIM</a> #160800) is also called Thomsen disease, after Danish/German physician Asmus Julius Thomas Thomsen (1815–1896), who himself had the disease and who wrote the first description of it in the <a href="/wiki/Medical_literature" title="Medical literature">medical literature</a> (in 1876).<sup id="cite_ref-18" class="reference"><a href="#cite_note-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> Autosomal recessive myotonia congenita (OMIM #255700) is also called generalized myotonia, recessive generalized myotonia (RGM), Becker disease, and Becker myotonia, after the German professor <a href="/wiki/Peter_Emil_Becker" title="Peter Emil Becker">Peter Emil Becker</a>, who discovered its recessive nature.<sup id="cite_ref-19" class="reference"><a href="#cite_note-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> </p><p>The term <i><a href="/wiki/Congenital_disorder" class="mw-redirect" title="Congenital disorder">congenital</a></i> in its <a href="/wiki/Word_sense" title="Word sense">sense</a> of "clinically apparent from birth" applies only to Thomsen disease, as the clinical onset of Becker myotonia may be delayed up to the age of 4 to 6 years.<sup id="cite_ref-Lossin_2008_25-55_2-1" class="reference"><a href="#cite_note-Lossin_2008_25-55-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> But in either form of myotonia congenita, the term's strictest sense reflects that the disease is genetically present from birth, although the clinical onset may be delayed.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>]</sup> </p><p>With the advent of <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a>, it has recently been found that some typically recessive mutations may occur in a dominant fashion in some individuals. The reason for this is not known.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2020)">citation needed</span></a></i>]</sup> </p><p>Because <a href="#Pathophysiology">several CLCN1 mutations can cause either Becker disease or Thomsen disease</a>, doctors usually rely on characteristic signs and symptoms to distinguish the two forms of myotonia congenita. However, myotonia caused by CLCN1 mutations can occasionally be clinically indistinguishable from myotonia caused by sodium channel mutations (<a href="/wiki/SCN4A" class="mw-redirect" title="SCN4A">SCN4A</a> mutations) resulting in the similar disease <a href="/wiki/Paramyotonia_congenita" title="Paramyotonia congenita">paramyotonia congenita</a>.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2020)">citation needed</span></a></i>]</sup> </p><p>A so-called <a href="/wiki/Finnish_heritage_disease" title="Finnish heritage disease">Finnish heritage disease</a>, congenital myotonia is more common in <a href="/wiki/Finland" title="Finland">Finland</a> and among ethnic <a href="/wiki/Finns" title="Finns">Finns</a>. A molecular study of the CLCN1 gene in 24 families in northern Finland, including 46 affected individuals, showed that although the inheritance appeared to be dominant (Thomsen type), in fact it is recessive (Becker type).<sup id="cite_ref-pmid10430417_20-0" class="reference"><a href="#cite_note-pmid10430417-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Differential_diagnosis">Differential diagnosis</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Myotonia_congenita&action=edit&section=8" title="Edit section: Differential diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><b>Sodium channel myotonias (<a href="/wiki/SCN4A" class="mw-redirect" title="SCN4A">SCN4A</a>)</b> </p> <ul><li><a href="/wiki/Potassium-aggravated_myotonia" title="Potassium-aggravated myotonia">Potassium-aggravated myotonia</a> (acetazolamide responsive myotonia)</li> <li><a href="/wiki/Paramyotonia_congenita" title="Paramyotonia congenita">Paramyotonia congenita</a></li> <li><a href="/wiki/Hyperkalemic_periodic_paralysis" title="Hyperkalemic periodic paralysis">Hyperkalemic periodic paralysis</a></li></ul> <p><b>Dystrophies</b> </p> <ul><li><a href="/wiki/Myotonic_dystrophy" title="Myotonic dystrophy">Myotonic dystrophy</a> (myotonic muscular dystrophy: Type 1 and Type 2)</li></ul> <p><b>Potassium channel disorders (<a href="/wiki/KCNJ2" class="mw-redirect" title="KCNJ2">KCNJ2</a>)</b> </p> <ul><li><a href="/wiki/Andersen-Tawil_syndrome" class="mw-redirect" title="Andersen-Tawil syndrome">Andersen-Tawil syndrome</a></li></ul> <p><b>Other disorders</b> </p> <ul><li>Thyroid disorders</li> <li><a href="/wiki/Neuromyotonia" title="Neuromyotonia">Neuromyotonia</a> (Isaacs Syndrome)</li> <li><a href="/wiki/Schwartz%E2%80%93Jampel_syndrome" title="Schwartz–Jampel syndrome">Schwartz–Jampel syndrome</a></li> <li><a href="/wiki/Stiff_person_syndrome" class="mw-redirect" title="Stiff person syndrome">Stiff person syndrome</a></li> <li><a href="/wiki/Brody_myopathy" title="Brody myopathy">Brody myopathy</a> (Brody Disease, Brody's Disease, Brody's Myopathy)</li></ul> <div class="mw-heading mw-heading2"><h2 id="Treatment">Treatment</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Myotonia_congenita&action=edit&section=9" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Some cases of myotonia congenita do not require treatment, or it is determined that the risks of the medication outweigh the benefits. If necessary, however, symptoms of the disorder may be relieved with <a href="/wiki/Quinine" title="Quinine">quinine</a>, ranolazine, procainamide, flecainide, <a href="/wiki/Phenytoin" title="Phenytoin">phenytoin</a>, <a href="/wiki/Carbamazepine" title="Carbamazepine">carbamazepine</a>, <a href="/wiki/Mexiletine" title="Mexiletine">mexiletine</a> and other <a href="/wiki/Anticonvulsant" title="Anticonvulsant">anticonvulsant drugs</a>. Physical therapy and other rehabilitative measures may also be used to help muscle function. Genetic counseling is available.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Myotonia_congenita&action=edit&section=10" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>In northern Scandinavia, the prevalence of myotonia congenita has been estimated at 1:10,000.<sup id="cite_ref-pmid10430417_20-1" class="reference"><a href="#cite_note-pmid10430417-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> </p><p>Myotonia congenita is estimated to affect 1 in 100,000 people worldwide.<sup id="cite_ref-21" class="reference"><a href="#cite_note-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Research">Research</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Myotonia_congenita&action=edit&section=11" title="Edit section: Research"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The name <i>Thomsen's disease</i> refers to the Danish physician Julius Thomsen (1815–1896) who described the condition in himself and his family.<sup id="cite_ref-22" class="reference"><a href="#cite_note-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> </p><p>Myotonia can be achieved in preparations of intact isolated muscle by the administration of 9-Anthracenecarboxylic acid, a blocker of chloride channels.<sup id="cite_ref-23" class="reference"><a href="#cite_note-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid3718080_24-0" class="reference"><a href="#cite_note-pmid3718080-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> It is also possible to achieve myotonia in preparations of intact isolated muscle by greatly lowering or removing the extracellular content of chloride in the bathing medium.<sup id="cite_ref-Missingor_16-1" class="reference"><a href="#cite_note-Missingor-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p><p>During the 1970s several murine models of myotonia appeared. One in particular has been used widely, the <i>adr</i> mouse or "arrested development of righting response".<sup id="cite_ref-25" class="reference"><a href="#cite_note-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup> This model is often used in scientific work with <a href="/wiki/Muscular_dystrophy" title="Muscular dystrophy">muscular dystrophy</a>, and displays myotonia due to lack of functional chloride channels.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2020)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Myotonia_congenita&action=edit&section=12" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Fainting_goat" title="Fainting goat">Fainting goat</a></li> <li><a href="/wiki/Tonic_immobility" class="mw-redirect" title="Tonic immobility">Tonic immobility</a></li> <li><a href="/wiki/New_Forest_pony" title="New Forest pony">New Forest pony</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Myotonia_congenita&action=edit&section=13" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-1">^</a></b></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite id="CITEREFGutmannPhillips_Lh2008" class="citation journal cs1">Gutmann, Laurie; Phillips Lh, Lawrence (2008). "Myotonia Congenita". <i>Seminars in Neurology</i>. <b>11</b> (3): 244–8. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1055%2Fs-2008-1041228">10.1055/s-2008-1041228</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/1947487">1947487</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:20602810">20602810</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Seminars+in+Neurology&rft.atitle=Myotonia+Congenita&rft.volume=11&rft.issue=3&rft.pages=244-8&rft.date=2008&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A20602810%23id-name%3DS2CID&rft_id=info%3Apmid%2F1947487&rft_id=info%3Adoi%2F10.1055%2Fs-2008-1041228&rft.aulast=Gutmann&rft.aufirst=Laurie&rft.au=Phillips+Lh%2C+Lawrence&rfr_id=info%3Asid%2Fen.wikipedia.org%3AMyotonia+congenita" class="Z3988"></span></span> </li> <li id="cite_note-Lossin_2008_25-55-2"><span class="mw-cite-backlink">^ <a href="#cite_ref-Lossin_2008_25-55_2-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Lossin_2008_25-55_2-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFLossinGeorge2008" class="citation book cs1">Lossin, Christoph; George, Alfred L. (2008). <a rel="nofollow" class="external text" href="https://books.google.com/books?id=jxZ2AmD_oRgC&pg=PA25">"Myotonia Congenita"</a>. In Rouleau, Guy; Gaspar, Claudia (eds.). <i>Advances in Genetics</i>. Vol. 63. pp. 25–55. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2FS0065-2660%2808%2901002-X">10.1016/S0065-2660(08)01002-X</a>. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-0-12-374527-9" title="Special:BookSources/978-0-12-374527-9"><bdi>978-0-12-374527-9</bdi></a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/19185184">19185184</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=Myotonia+Congenita&rft.btitle=Advances+in+Genetics&rft.pages=25-55&rft.date=2008&rft_id=info%3Apmid%2F19185184&rft_id=info%3Adoi%2F10.1016%2FS0065-2660%2808%2901002-X&rft.isbn=978-0-12-374527-9&rft.aulast=Lossin&rft.aufirst=Christoph&rft.au=George%2C+Alfred+L.&rft_id=https%3A%2F%2Fbooks.google.com%2Fbooks%3Fid%3DjxZ2AmD_oRgC%26pg%3DPA25&rfr_id=info%3Asid%2Fen.wikipedia.org%3AMyotonia+congenita" class="Z3988"></span></span> </li> <li id="cite_note-Rüdel_1988_202-11-3"><span class="mw-cite-backlink">^ <a href="#cite_ref-Rüdel_1988_202-11_3-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Rüdel_1988_202-11_3-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFRüdelRickerLehmann-Horn1988" class="citation journal cs1">Rüdel, Reinhardt; Ricker, Kenneth; Lehmann-Horn, Frank (1988). "Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker)". <i>Muscle & Nerve</i>. <b>11</b> (3): 202–11. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fmus.880110303">10.1002/mus.880110303</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/3352655">3352655</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:25778532">25778532</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Muscle+%26+Nerve&rft.atitle=Transient+weakness+and+altered+membrane+characteristic+in+recessive+generalized+myotonia+%28Becker%29&rft.volume=11&rft.issue=3&rft.pages=202-11&rft.date=1988&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A25778532%23id-name%3DS2CID&rft_id=info%3Apmid%2F3352655&rft_id=info%3Adoi%2F10.1002%2Fmus.880110303&rft.aulast=R%C3%BCdel&rft.aufirst=Reinhardt&rft.au=Ricker%2C+Kenneth&rft.au=Lehmann-Horn%2C+Frank&rfr_id=info%3Asid%2Fen.wikipedia.org%3AMyotonia+congenita" class="Z3988"></span></span> </li> <li id="cite_note-4"><span class="mw-cite-backlink"><b><a href="#cite_ref-4">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBeckerKnussmannKühn1977" class="citation book cs1">Becker, Peter Emil; Knussmann, Rainer; Kühn, Erich (1977). <i>Myotonia congenita and syndromes associated with myotonia: clinical-genetic studies of the nondystrophic myotonias</i>. 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(September 2013)">page needed</span></a></i>]</sup></span> </li> <li id="cite_note-5"><span class="mw-cite-backlink"><b><a href="#cite_ref-5">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFWakemanBabuTarletonMacDonald2008" class="citation journal cs1">Wakeman, Bradley; Babu, Deepti; Tarleton, Jack; MacDonald, Ian M. (2008). 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href="https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=myotonia-c">GeneReview/NCBI/NIH/UW entry on myotonia congenita</a></li> <li>NINDS: <a rel="nofollow" class="external text" href="http://www.ninds.nih.gov/disorders/disorder_index.htm">Myotonia congenita</a> <a rel="nofollow" class="external text" href="https://web.archive.org/web/20161215185346/https://www.ninds.nih.gov/disorders/disorder_index.htm">Archived</a> 2016-12-15 at the <a href="/wiki/Wayback_Machine" title="Wayback Machine">Wayback Machine</a></li> <li>National Library of Medicine: <a rel="nofollow" class="external text" href="http://ghr.nlm.nih.gov/condition=myotoniacongenita?wf=1">Myotonia congenita</a></li></ul> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid #a2a9b1;width:100%;clear:both;font-size:88%;text-align:center;padding:1px;margin:1em auto 0}.mw-parser-output .navbox 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ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q587420" class="extiw" title="d:Q587420">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/G71.1">G71.1</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10-CM" title="ICD-10-CM">10-CM</a></b>: <a rel="nofollow" class="external text" href="https://icd10cmtool.cdc.gov/?fy=FY2024&query=G71.12">G71.12</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=359.2">359.2</a></li><li><b><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a></b>: <a rel="nofollow" class="external text" href="https://omim.org/entry/160800">160800</a></li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D009224">D009224</a></li><li><b><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a></b>: <a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb8736.htm">8736</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a></b>: <a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/001424.htm">001424</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Diseases_of_muscle,_neuromuscular_junction,_and_neuromuscular_disease" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output .navbar-collapse{float:left;text-align:left}.mw-parser-output .navbar-boxtext{word-spacing:0}.mw-parser-output .navbar ul{display:inline-block;white-space:nowrap;line-height:inherit}.mw-parser-output .navbar-brackets::before{margin-right:-0.125em;content:"[ "}.mw-parser-output .navbar-brackets::after{margin-left:-0.125em;content:" ]"}.mw-parser-output .navbar li{word-spacing:-0.125em}.mw-parser-output .navbar a>span,.mw-parser-output .navbar a>abbr{text-decoration:inherit}.mw-parser-output .navbar-mini abbr{font-variant:small-caps;border-bottom:none;text-decoration:none;cursor:inherit}.mw-parser-output .navbar-ct-full{font-size:114%;margin:0 7em}.mw-parser-output .navbar-ct-mini{font-size:114%;margin:0 4em}html.skin-theme-clientpref-night .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}@media(prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Diseases_of_myoneural_junction_and_muscle" title="Template:Diseases of myoneural junction and muscle"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Diseases_of_myoneural_junction_and_muscle" title="Template talk:Diseases of myoneural junction and muscle"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Diseases_of_myoneural_junction_and_muscle" title="Special:EditPage/Template:Diseases of myoneural junction and muscle"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Diseases_of_muscle,_neuromuscular_junction,_and_neuromuscular_disease" style="font-size:114%;margin:0 4em">Diseases of <a href="/wiki/Muscle" title="Muscle">muscle</a>, <a href="/wiki/Neuromuscular_junction" title="Neuromuscular junction">neuromuscular junction</a>, and <a href="/wiki/Neuromuscular_disease" title="Neuromuscular disease">neuromuscular disease</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Neuromuscular_junction_disease" title="Neuromuscular junction disease">Neuromuscular-</a><br /><a href="/wiki/Neuromuscular_junction_disease" title="Neuromuscular junction disease">junction disease</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Autoimmune" class="mw-redirect" title="Autoimmune">autoimmune</a></i> <ul><li><a href="/wiki/Myasthenia_gravis" title="Myasthenia gravis">Myasthenia gravis</a></li> <li><a href="/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome" title="Lambert–Eaton myasthenic syndrome">Lambert–Eaton myasthenic syndrome</a></li> <li><a href="/wiki/Neuromyotonia" title="Neuromyotonia">Neuromyotonia</a></li></ul></li> <li><a href="/wiki/Congenital_myasthenic_syndrome" title="Congenital myasthenic syndrome">Congenital myasthenic syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Myopathy" title="Myopathy">Myopathy</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Muscular_dystrophy" title="Muscular dystrophy">Muscular dystrophy</a><br />(<a href="/wiki/Dystrophin-associated_protein_complex" title="Dystrophin-associated protein complex">DAPC</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">AD</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Limb-girdle_muscular_dystrophy" class="mw-redirect" title="Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy 1</a></li> <li><a href="/wiki/Oculopharyngeal_muscular_dystrophy" title="Oculopharyngeal muscular dystrophy">Oculopharyngeal</a></li> <li><a href="/wiki/Facioscapulohumeral_muscular_dystrophy" title="Facioscapulohumeral muscular dystrophy">Facioscapulohumeral</a></li> <li><a href="/wiki/Myotonic_dystrophy" title="Myotonic dystrophy">Myotonic</a></li> <li><a href="/wiki/Distal_muscular_dystrophy" class="mw-redirect" title="Distal muscular dystrophy">Distal (most)</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">AR</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Calpainopathy" title="Calpainopathy">Calpainopathy</a></li> <li><a href="/wiki/Limb-girdle_muscular_dystrophy" class="mw-redirect" title="Limb-girdle muscular dystrophy">Limb-girdle muscular dystrophy 2</a></li> <li><a href="/wiki/Congenital_muscular_dystrophy" title="Congenital muscular dystrophy">Congenital</a> <ul><li><a href="/wiki/Fukuyama_congenital_muscular_dystrophy" title="Fukuyama congenital muscular dystrophy">Fukuyama</a></li> <li><a href="/wiki/Ullrich_congenital_muscular_dystrophy" title="Ullrich congenital muscular dystrophy">Ullrich</a></li> <li><a href="/wiki/Walker%E2%80%93Warburg_syndrome" title="Walker–Warburg syndrome">Walker–Warburg</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/X-linked_recessive" class="mw-redirect" title="X-linked recessive">XR</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Dystrophin" title="Dystrophin">dystrophin</a></i> <ul><li><a href="/wiki/Becker%27s_muscular_dystrophy" class="mw-redirect" title="Becker's muscular dystrophy">Becker's</a></li> <li><a href="/wiki/Duchenne_muscular_dystrophy" title="Duchenne muscular dystrophy">Duchenne</a></li></ul></li> <li><a href="/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy" title="Emery–Dreifuss muscular dystrophy">Emery–Dreifuss</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other structural</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Collagen_disease" title="Collagen disease">collagen disease</a></i> <ul><li><a href="/wiki/Bethlem_myopathy" title="Bethlem myopathy">Bethlem myopathy</a></li></ul></li> <li><i><a href="/wiki/Protein_tyrosine_phosphatase" title="Protein tyrosine phosphatase">PTP disease</a></i> <ul><li><a href="/wiki/X-linked_myotubular_myopathy" title="X-linked myotubular myopathy">X-linked MTM</a></li></ul></li> <li><i><a href="/wiki/Signal_transducing_adaptor_protein" title="Signal transducing adaptor protein">adaptor protein disease</a></i> <ul><li><a href="/wiki/Centronuclear_myopathy" title="Centronuclear myopathy">BIN1-linked centronuclear myopathy</a></li></ul></li> <li><i><a href="/wiki/Cytoskeleton" title="Cytoskeleton">cytoskeleton disease</a></i> <ul><li><a href="/wiki/Nemaline_myopathy" title="Nemaline myopathy">Nemaline myopathy</a></li> <li><a href="/wiki/Zaspopathy" title="Zaspopathy">Zaspopathy</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Channelopathy" title="Channelopathy">Channelopathy</a> <ul><li>(ion channel)</li></ul></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Myotonia" title="Myotonia">Myotonia</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <li><a class="mw-selflink selflink">Myotonia congenita</a> <ul><li><a href="/wiki/Thomsen_disease" class="mw-redirect" title="Thomsen disease">Thomsen disease</a></li> <li><a href="/wiki/Becker_disease" class="mw-redirect" title="Becker disease">Becker disease</a></li></ul></li> <li><a href="/wiki/Neuromyotonia" title="Neuromyotonia">Neuromyotonia</a> <ul><li><a href="/wiki/Isaacs_syndrome" class="mw-redirect" title="Isaacs syndrome">Isaacs syndrome</a></li></ul></li> <li><a href="/wiki/Paramyotonia_congenita" title="Paramyotonia congenita">Paramyotonia congenita</a></li> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Periodic_paralysis" title="Periodic paralysis">Periodic paralysis</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypokalemic_periodic_paralysis" title="Hypokalemic periodic paralysis">Hypokalemic</a> <ul><li><a href="/wiki/Thyrotoxic_periodic_paralysis" title="Thyrotoxic periodic paralysis">Thyrotoxic</a></li></ul></li> <li><a href="/wiki/Hyperkalemic_periodic_paralysis" title="Hyperkalemic periodic paralysis">Hyperkalemic</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Central_core_disease" title="Central core disease">Central core disease</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">ATPase disorder <ul><li>(ion pump)</li></ul></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <li><a href="/wiki/Brody_myopathy" title="Brody myopathy">Brody disease</a> (<a href="/wiki/ATP2A1" title="ATP2A1">ATP2A1</a>)</li> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Metabolic_myopathy" title="Metabolic myopathy">Metabolic myopathy</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li>Muscle <a href="/wiki/Glycogen_storage_disease" title="Glycogen storage disease">Glycogen storage disease</a></li> <li><a href="/wiki/Fatty-acid_metabolism_disorder" title="Fatty-acid metabolism disorder">Fatty-acid metabolism disorder</a></li> <li><a href="/wiki/Adenosine_monophosphate_deaminase_deficiency_type_1" title="Adenosine monophosphate deaminase deficiency type 1">AMPD1 deficiency</a></li> <li><a href="/wiki/Mitochondrial_myopathy" title="Mitochondrial myopathy">Mitochondrial myopathy</a> (<a href="/wiki/MELAS_syndrome" title="MELAS syndrome">MELAS</a></li> <li><a href="/wiki/MERRF_syndrome" title="MERRF syndrome">MERRF</a></li> <li><a href="/wiki/Kearns%E2%80%93Sayre_syndrome" title="Kearns–Sayre syndrome">KSS</a></li> <li><a href="/wiki/Chronic_progressive_external_ophthalmoplegia" title="Chronic progressive external ophthalmoplegia">PEO</a></li> <li><a href="/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome" title="Mitochondrial neurogastrointestinal encephalopathy syndrome">MNGIE</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Endocrine_disease" title="Endocrine disease">Endocrinopathy</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypothyroid" class="mw-redirect" title="Hypothyroid">Hypothyroid</a> myopathy <ul><li><a href="/wiki/Kocher%E2%80%93Debre%E2%80%93Semelaigne_syndrome" title="Kocher–Debre–Semelaigne syndrome">Kocher–Debre–Semelaigne syndrome</a></li> <li><a href="/wiki/Hoffmann_syndrome" title="Hoffmann syndrome">Hoffmann syndrome</a></li></ul></li> <li><a href="/wiki/Hyperthyroid" class="mw-redirect" title="Hyperthyroid">Hyperthyroid</a> myopathy <ul><li><a href="/wiki/Thyrotoxic_myopathy" title="Thyrotoxic myopathy">Thyrotoxic myopathy</a></li></ul></li> <li><a href="/wiki/Hypoparathyroidism" title="Hypoparathyroidism">Hypoparathyroid myopathy</a></li> <li><a href="/wiki/Hyperparathyroidism" title="Hyperparathyroidism">Hyperparathyroid myopathy</a></li> <li><a href="/wiki/Hypercortisolism" class="mw-redirect" title="Hypercortisolism">Hypercortisolism</a> <ul><li>Corticosteroid myopathy</li></ul></li> <li>Testosterone deficiency myopathy <ul><li><a href="/wiki/Late-onset_hypogonadism" title="Late-onset hypogonadism">Late-onset hypogonadism</a></li> <li><a href="/wiki/Hypogonadotropic_hypogonadism" title="Hypogonadotropic hypogonadism">Hypogonadotropic hypogonadism</a></li> <li><a href="/wiki/Androgen_deficiency" title="Androgen deficiency">Androgen deficiency</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">General</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Inflammatory_myopathy" title="Inflammatory myopathy">Inflammatory myopathy</a></li> <li><a href="/wiki/Congenital_myopathy" title="Congenital myopathy">Congenital myopathy</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Diseases_of_ion_channels" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Channelopathy" title="Template:Channelopathy"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Channelopathy" title="Template talk:Channelopathy"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Channelopathy" title="Special:EditPage/Template:Channelopathy"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Diseases_of_ion_channels" style="font-size:114%;margin:0 4em"><a href="/wiki/Channelopathy" title="Channelopathy">Diseases of ion channels</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Calcium_channel" title="Calcium channel">Calcium channel</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Voltage-dependent_calcium_channel" class="mw-redirect" title="Voltage-dependent calcium channel">Voltage-gated</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Cav2.1" title="Cav2.1">CACNA1A</a></i> <ul><li><a href="/wiki/Familial_hemiplegic_migraine" title="Familial hemiplegic migraine">Familial hemiplegic migraine 1</a></li> <li><a href="/wiki/Episodic_ataxia" title="Episodic ataxia">Episodic ataxia 2</a></li> <li><a href="/wiki/Spinocerebellar_ataxia_type-6" class="mw-redirect" title="Spinocerebellar ataxia type-6">Spinocerebellar ataxia type-6</a></li></ul></li> <li><i><a href="/wiki/Cav1.2" title="Cav1.2">CACNA1C</a></i> <ul><li><a href="/wiki/Timothy_syndrome" title="Timothy syndrome">Timothy syndrome</a></li> <li><a href="/wiki/Brugada_syndrome" title="Brugada syndrome">Brugada syndrome 3</a></li> <li><a href="/wiki/Long_QT_syndrome" title="Long QT syndrome">Long QT syndrome 8</a></li></ul></li> <li><i><a href="/wiki/Cav1.4" title="Cav1.4">CACNA1F</a></i> <ul><li><a href="/wiki/Ocular_albinism" title="Ocular albinism">Ocular albinism 2</a></li> <li><a href="/wiki/X-linked_congenital_stationary_night_blindness" class="mw-redirect" title="X-linked congenital stationary night blindness">CSNB2A</a></li></ul></li> <li><i><a href="/wiki/Cav1.1" title="Cav1.1">CACNA1S</a></i> <ul><li><a href="/wiki/Hypokalemic_periodic_paralysis" title="Hypokalemic periodic paralysis">Hypokalemic periodic paralysis 1</a></li> <li><a href="/wiki/Thyrotoxic_periodic_paralysis" title="Thyrotoxic periodic paralysis">Thyrotoxic periodic paralysis 1</a></li></ul></li> <li><i><a href="/wiki/CACNB2" title="CACNB2">CACNB2</a></i> <ul><li><a href="/wiki/Brugada_syndrome" title="Brugada syndrome">Brugada syndrome 4</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Ligand gated</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/RYR1" class="mw-redirect" title="RYR1">RYR1</a></i> <ul><li><a href="/wiki/Malignant_hyperthermia" title="Malignant hyperthermia">Malignant hyperthermia</a></li> <li><a href="/wiki/Central_core_disease" title="Central core disease">Central core disease</a></li></ul></li> <li><i><a href="/wiki/RYR2" class="mw-redirect" title="RYR2">RYR2</a></i> <ul><li><a href="/wiki/Catecholaminergic_polymorphic_ventricular_tachycardia" title="Catecholaminergic polymorphic ventricular tachycardia">CPVT1</a></li> <li><a href="/wiki/Arrhythmogenic_right_ventricular_dysplasia" class="mw-redirect" title="Arrhythmogenic right ventricular dysplasia">ARVD2</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Sodium_channel" title="Sodium channel">Sodium channel</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Voltage-gated</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/SCN1A" title="SCN1A">SCN1A</a></i> <ul><li><a href="/wiki/Familial_hemiplegic_migraine" title="Familial hemiplegic migraine">Familial hemiplegic migraine 3</a></li> <li><a href="/wiki/Generalized_epilepsy_with_febrile_seizures_plus" title="Generalized epilepsy with febrile seizures plus">GEFS+ 2</a></li> <li><a href="/wiki/Febrile_seizure" title="Febrile seizure">Febrile seizure 3A</a></li></ul></li> <li><i><a href="/wiki/SCN1B" title="SCN1B">SCN1B</a></i> <ul><li><a href="/wiki/Brugada_syndrome" title="Brugada syndrome">Brugada syndrome 6</a></li> <li><a href="/wiki/Generalized_epilepsy_with_febrile_seizures_plus" title="Generalized epilepsy with febrile seizures plus">GEFS+ 1</a></li></ul></li> <li><i><a href="/wiki/SCN4A" class="mw-redirect" title="SCN4A">SCN4A</a></i> <ul><li><a href="/wiki/Hypokalemic_periodic_paralysis" title="Hypokalemic periodic paralysis">Hypokalemic periodic paralysis 2</a></li> <li><a href="/wiki/Hyperkalemic_periodic_paralysis" title="Hyperkalemic periodic paralysis">Hyperkalemic periodic paralysis</a></li> <li><a href="/wiki/Paramyotonia_congenita" title="Paramyotonia congenita">Paramyotonia congenita</a></li> <li><a href="/wiki/Potassium-aggravated_myotonia" title="Potassium-aggravated myotonia">Potassium-aggravated myotonia</a></li></ul></li> <li><i><a href="/wiki/SCN4B" title="SCN4B">SCN4B</a></i> <ul><li><a href="/wiki/Long_QT_syndrome" title="Long QT syndrome">Long QT syndrome 10</a></li></ul></li> <li><i><a href="/wiki/SCN5A" title="SCN5A">SCN5A</a></i> <ul><li><a href="/wiki/Brugada_syndrome" title="Brugada syndrome">Brugada syndrome 1</a></li> <li><a href="/wiki/Long_QT_syndrome" title="Long QT syndrome">Long QT syndrome 3</a></li></ul></li> <li><i><a href="/wiki/SCN9A" class="mw-redirect" title="SCN9A">SCN9A</a></i> <ul><li><a href="/wiki/Erythromelalgia" title="Erythromelalgia">Erythromelalgia</a></li> <li><a href="/wiki/Febrile_seizure" title="Febrile seizure">Febrile seizure 3B</a></li> <li><a href="/wiki/Paroxysmal_extreme_pain_disorder" title="Paroxysmal extreme pain disorder">Paroxysmal extreme pain disorder</a></li> <li><a href="/wiki/Congenital_insensitivity_to_pain" title="Congenital insensitivity to pain">Congenital insensitivity to pain</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Epithelial_sodium_channel" title="Epithelial sodium channel">Constitutively active</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/SCNN1B" title="SCNN1B">SCNN1B</a></i>/<i><a href="/wiki/SCNN1G" title="SCNN1G">SCNN1G</a></i> <ul><li><a href="/wiki/Liddle%27s_syndrome" title="Liddle's syndrome">Liddle's syndrome</a></li></ul></li> <li><i><a href="/wiki/SCNN1A" title="SCNN1A">SCNN1A</a></i>/<i><a href="/wiki/SCNN1B" title="SCNN1B">SCNN1B</a></i>/<i><a href="/wiki/SCNN1G" title="SCNN1G">SCNN1G</a></i> <ul><li><a href="/wiki/Pseudohypoaldosteronism" title="Pseudohypoaldosteronism">Pseudohypoaldosteronism 1AR</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Potassium_channel" title="Potassium channel">Potassium channel</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Voltage-gated_potassium_channel" title="Voltage-gated potassium channel">Voltage-gated</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/KCNA1" class="mw-redirect" title="KCNA1">KCNA1</a></i> <ul><li><a href="/wiki/Episodic_ataxia" title="Episodic ataxia">Episodic ataxia 1</a></li></ul></li> <li><i><a href="/wiki/KCNA5" title="KCNA5">KCNA5</a></i> <ul><li><a href="/wiki/Familial_atrial_fibrillation" title="Familial atrial fibrillation">Familial atrial fibrillation 7</a></li></ul></li> <li><i><a href="/wiki/KCNC3" title="KCNC3">KCNC3</a></i> <ul><li><a href="/wiki/Spinocerebellar_ataxia_type-13" title="Spinocerebellar ataxia type-13">Spinocerebellar ataxia type-13</a></li></ul></li> <li><i><a href="/wiki/KCNE1" title="KCNE1">KCNE1</a></i> <ul><li><a href="/wiki/Jervell_and_Lange-Nielsen_syndrome" title="Jervell and Lange-Nielsen syndrome">Jervell and Lange-Nielsen syndrome</a></li> <li><a href="/wiki/Long_QT_syndrome" title="Long QT syndrome">Long QT syndrome 5</a></li></ul></li> <li><i><a href="/wiki/KCNE2" title="KCNE2">KCNE2</a></i> <ul><li><a href="/wiki/Long_QT_syndrome" title="Long QT syndrome">Long QT syndrome 6</a></li></ul></li> <li><i><a href="/wiki/KCNE3" title="KCNE3">KCNE3</a></i> <ul><li><a href="/wiki/Brugada_syndrome" title="Brugada syndrome">Brugada syndrome 5</a></li></ul></li> <li><i><a href="/wiki/KCNH2" class="mw-redirect" title="KCNH2">KCNH2</a></i> <ul><li><a href="/wiki/Short_QT_syndrome" title="Short QT syndrome">Short QT syndrome</a></li></ul></li> <li><i><a href="/wiki/KCNQ1" class="mw-redirect" title="KCNQ1">KCNQ1</a></i> <ul><li><a href="/wiki/Jervell_and_Lange-Nielsen_syndrome" title="Jervell and Lange-Nielsen syndrome">Jervell and Lange-Nielsen syndrome</a></li> <li><a href="/wiki/Romano%E2%80%93Ward_syndrome" title="Romano–Ward syndrome">Romano–Ward syndrome</a></li> <li><a href="/wiki/Short_QT_syndrome" title="Short QT syndrome">Short QT syndrome</a></li> <li><a href="/wiki/Long_QT_syndrome" title="Long QT syndrome">Long QT syndrome 1</a></li> <li><a href="/wiki/Familial_atrial_fibrillation" title="Familial atrial fibrillation">Familial atrial fibrillation 3</a></li></ul></li> <li><i><a href="/wiki/KCNQ2" class="mw-redirect" title="KCNQ2">KCNQ2</a></i> <ul><li><a href="/wiki/Benign_familial_neonatal_epilepsy" class="mw-redirect" title="Benign familial neonatal epilepsy">BFNS1</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Inward-rectifier_potassium_ion_channel" class="mw-redirect" title="Inward-rectifier potassium ion channel">Inward-rectifier</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ROMK" title="ROMK">KCNJ1</a></i> <ul><li><a href="/wiki/Bartter_syndrome" title="Bartter syndrome">Bartter syndrome 2</a></li></ul></li> <li><i><a href="/wiki/KCNJ2" class="mw-redirect" title="KCNJ2">KCNJ2</a></i> <ul><li><a href="/wiki/Andersen%E2%80%93Tawil_syndrome" title="Andersen–Tawil syndrome">Andersen–Tawil syndrome</a></li> <li><a href="/wiki/Long_QT_syndrome" title="Long QT syndrome">Long QT syndrome 7</a></li> <li><a href="/wiki/Short_QT_syndrome" title="Short QT syndrome">Short QT syndrome</a></li></ul></li> <li><i><a href="/wiki/Kir6.2" title="Kir6.2">KCNJ11</a></i> <ul><li><a href="/wiki/Transient_neonatal_diabetes_mellitus" class="mw-redirect" title="Transient neonatal diabetes mellitus">TNDM3</a></li></ul></li> <li><i><a href="/wiki/KCNJ18" class="mw-redirect" title="KCNJ18">KCNJ18</a></i> <ul><li><a href="/wiki/Thyrotoxic_periodic_paralysis" title="Thyrotoxic periodic paralysis">Thyrotoxic periodic paralysis 2</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Chloride_channel" title="Chloride channel">Chloride channel</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Cystic_fibrosis_transmembrane_conductance_regulator" title="Cystic fibrosis transmembrane conductance regulator">CFTR</a></i> <ul><li><a href="/wiki/Cystic_fibrosis" title="Cystic fibrosis">Cystic fibrosis</a></li> <li><a href="/wiki/Congenital_absence_of_the_vas_deferens" title="Congenital absence of the vas deferens">Congenital absence of the vas deferens</a></li></ul></li> <li><i><a href="/wiki/CLCN1" title="CLCN1">CLCN1</a></i> <ul><li><a href="/wiki/Thomsen_disease" class="mw-redirect" title="Thomsen disease">Thomsen disease</a></li> <li><a class="mw-selflink selflink">Myotonia congenita</a></li></ul></li> <li><i><a href="/wiki/CLCN5" title="CLCN5">CLCN5</a></i> <ul><li><a href="/wiki/Dent%27s_disease" title="Dent's disease">Dent's disease</a></li></ul></li> <li><i><a href="/wiki/CLCN7" title="CLCN7">CLCN7</a></i> <ul><li><a href="/wiki/Osteopetrosis" title="Osteopetrosis">Osteopetrosis A2, B4</a></li></ul></li> <li><i><a href="/wiki/Bestrophin_1" title="Bestrophin 1">BEST1</a></i> <ul><li><a href="/wiki/Vitelliform_macular_dystrophy" title="Vitelliform macular dystrophy">Vitelliform macular dystrophy</a></li></ul></li> <li><i><a href="/wiki/CLCNKB" title="CLCNKB">CLCNKB</a></i> <ul><li><a href="/wiki/Bartter_syndrome" title="Bartter syndrome">Bartter syndrome 3</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Transient_receptor_potential_channel" title="Transient receptor potential channel">TRP channel</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/TRPC6" title="TRPC6">TRPC6</a></i> <ul><li><a href="/wiki/Focal_segmental_glomerulosclerosis" title="Focal segmental glomerulosclerosis">FSGS2</a></li></ul></li> <li><i><a href="/wiki/MCOLN1" title="MCOLN1">TRPML1</a></i> <ul><li><a href="/wiki/Mucolipidosis_type_IV" title="Mucolipidosis type IV">Mucolipidosis type IV</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Connexin" title="Connexin">Connexin</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Gap_junction_protein,_alpha_1" class="mw-redirect" title="Gap junction protein, alpha 1">GJA1</a></i> <ul><li><a href="/wiki/Oculodentodigital_dysplasia" title="Oculodentodigital dysplasia">Oculodentodigital dysplasia</a></li> <li><a href="/wiki/Hallermann%E2%80%93Streiff_syndrome" title="Hallermann–Streiff syndrome">Hallermann–Streiff syndrome</a></li> <li><a href="/wiki/Hypoplastic_left_heart_syndrome" title="Hypoplastic left heart syndrome">Hypoplastic left heart syndrome</a></li></ul></li> <li><i><a href="/wiki/GJB1" title="GJB1">GJB1</a></i> <ul><li><a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease X1</a></li></ul></li> <li><i><a href="/wiki/GJB2" title="GJB2">GJB2</a></i> <ul><li><a href="/wiki/Keratitis%E2%80%93ichthyosis%E2%80%93deafness_syndrome" title="Keratitis–ichthyosis–deafness syndrome">Keratitis–ichthyosis–deafness syndrome</a></li> <li><a href="/wiki/Ichthyosis_hystrix" title="Ichthyosis hystrix">Ichthyosis hystrix</a></li> <li><a href="/wiki/Bart%E2%80%93Pumphrey_syndrome" title="Bart–Pumphrey syndrome">Bart–Pumphrey syndrome</a></li> <li><a href="/wiki/Vohwinkel_syndrome" class="mw-redirect" title="Vohwinkel syndrome">Vohwinkel syndrome</a>)</li></ul></li> <li><i><a href="/wiki/GJB3" title="GJB3">GJB3</a>/<a href="/wiki/GJB4" title="GJB4">GJB4</a></i> <ul><li><a href="/wiki/Erythrokeratodermia_variabilis" title="Erythrokeratodermia variabilis">Erythrokeratodermia variabilis</a></li> <li><a href="/wiki/Progressive_symmetric_erythrokeratodermia" title="Progressive symmetric erythrokeratodermia">Progressive symmetric erythrokeratodermia</a></li></ul></li> <li><i><a href="/wiki/GJB6" title="GJB6">GJB6</a></i> <ul><li><a href="/wiki/Clouston%27s_hidrotic_ectodermal_dysplasia" title="Clouston's hidrotic ectodermal dysplasia">Clouston's hidrotic ectodermal dysplasia</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Porin_(protein)" title="Porin (protein)">Porin</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Aquaporin_2" class="mw-redirect" title="Aquaporin 2">AQP2</a></i> <ul><li><a href="/wiki/Nephrogenic_diabetes_insipidus" title="Nephrogenic diabetes insipidus">Nephrogenic diabetes insipidus 2</a></li></ul></li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>See also: <a href="/wiki/Template:Ion_channels" title="Template:Ion channels">ion channels</a></i></div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" href="https://en.wikipedia.org/w/index.php?title=Myotonia_congenita&oldid=1249707028">https://en.wikipedia.org/w/index.php?title=Myotonia_congenita&oldid=1249707028</a>"</div></div> <div id="catlinks" class="catlinks" data-mw="interface"><div id="mw-normal-catlinks" class="mw-normal-catlinks"><a href="/wiki/Help:Category" title="Help:Category">Categories</a>: <ul><li><a href="/wiki/Category:Channelopathies" title="Category:Channelopathies">Channelopathies</a></li><li><a href="/wiki/Category:Myoneural_junction_and_neuromuscular_diseases" 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