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</div><div><span>Myotonia congenita</span></div></div>
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<article><div id="d-article"><div class="page-info"><div class="page-title"><a name="start" id="start">
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</a><h1 class="with-also" itemprop="name">Myotonia congenita</h1>
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</noscript></div><div class="main"><div id="ency_summary"><p>Myotonia congenita is an inherited condition that affects muscle relaxation. It is congenital, meaning that it is present from birth. It occurs more frequently in northern Scandinavia.</p></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-1"><p>Myotonia congenita is caused by a genetic change (genetic variant). It is passed down from either one or both parents to their children (inherited).</p><p>Myotonia congenita is caused by a problem in the part of the muscle cells that are needed for muscles to relax. Abnormal repeated electrical signals occur in the muscles, causing a type of muscle stiffness called myotonia.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Symptoms</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-2"><p>The hallmark of this condition is myotonia. This means the muscles are unable to quickly relax after contracting. For example, after a handshake, the person is only very slowly able to open and pull away their hand.</p><p>Early symptoms may include:</p><ul><li>
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Difficulty swallowing
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</li><li>
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Gagging
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</li><li>
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Stiff movements that improve when they are repeated
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</li><li>Shortness of breath or tightening of the chest at the beginning of exercise</li><li>Frequent falls</li><li>Difficulty opening eyes after forcing them closed or crying</li></ul><p>Children with myotonia congenita often look muscular and well-developed. They may not have symptoms of myotonia congenita until age 2 or 3.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Exams and Tests</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-3"><p>Your health care provider may ask if there is a family history of myotonia congenita.</p><p>Tests include:</p><ul><li><a test="test" href="./003929.htm">Electromyography</a> (EMG) and <a test="test" href="./003927.htm">nerve conduction studies</a> (NCS)</li><li>Genetic testing</li><li><a test="test" href="./003924.htm">Muscle biopsy</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Treatment</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-4"><p>As cold and stress can worsen symptoms, management is first directed at avoiding these potential triggers. Some forms of exercise may also be beneficial. Mexiletine is a medicine that treats symptoms of myotonia congenita. Other treatments include:</p><ul><li>Phenytoin</li><li>Procainamide</li><li>Quinine (rarely used now, due to side effects)</li><li>Carbamazepine</li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Support Groups</h2></div><div class="section-button"><button type="submit" aria-controls="section-5" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-5"><p>The following resources can provide more information on myotonia congenita:</p><ul><li>Muscular Dystrophy Association -- <a class="extln" target="_blank" href="https://www.mda.org/disease/myotonia-congenita">www.mda.org/disease/myotonia-congenita</a></li><li>National Library of Medicine, Medline Plus -- <a class="extln" target="_blank" href="https://medlineplus.gov/genetics/condition/myotonia-congenita/">medlineplus.gov/genetics/condition/myotonia-congenita/</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Outlook (Prognosis)</h2></div><div class="section-button"><button type="submit" aria-controls="section-6" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-6"><p>People with this condition can do well. Symptoms only occur when a movement is first started. After a few repetitions, the muscle relaxes and the movement becomes normal. </p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Possible Complications</h2></div><div class="section-button"><button type="submit" aria-controls="section-7" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-7"><p>Complications may include:</p><ul><li><a test="test" href="./000121.htm">Aspiration pneumonia</a> caused by swallowing difficulties</li><li>Frequent choking, gagging, or trouble swallowing in an infant</li><li>Long-term (chronic) joint problems</li><li>Weakness of the abdominal muscles </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</h2></div><div class="section-button"><button type="submit" aria-controls="section-8" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-8"><p>Contact your provider if your child has symptoms of myotonia congenita.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Prevention</h2></div><div class="section-button"><button type="submit" aria-controls="section-9" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-9"><p>Couples who want to have children and who have a family history of myotonia congenita should consider <a test="test" href="../patientinstructions/000510.htm">genetic counseling</a>.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Alternative Names</h2></div><div class="section-button"><button type="submit" aria-controls="section-Alt" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Alt"><p>Thomsen's disease; Becker's disease </p></div></div></section><section><div class="section sec-mb"><div class="section-header"><div class="section-title"><h2>Images</h2></div><div class="section-button"><button type="submit" aria-controls="section-tnails" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/9678t.jpg" alt="Superficial anterior muscles" title="Superficial anterior muscles" class="side-img"/><a href="../imagepages/9678.htm">Superficial anterior muscles</a></li>
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<li><img src="//medlineplus.gov/ency/images/ency/tnails/9676t.jpg" alt="Deep anterior muscles" title="Deep anterior muscles" class="side-img"/><a href="../imagepages/9676.htm">Deep anterior muscles</a></li>
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</ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
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</div></div><div class="section-body" id="section-Ref"><p>Bryan ES, Alsaleem M. Myotonia congenita. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024. Updated August 28, 2023. PMID: 32966006 <a href="https://www.ncbi.nlm.nih.gov/books/NBK562335/" target="_blank">www.ncbi.nlm.nih.gov/books/NBK562335/</a>.</p><p>Kang MK, Kerchner GA, Ptácek LJ. Channelopathies: episodic and electrical disorders of the nervous system. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. <em>Bradley and Daroff's Neurology in Clinical Practice</em>. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 98.</p><p>Manzur AY. Muscular dystrophies. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. <em>Nelson Textbook of Pediatrics</em>. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 649.</p><p>Selcen D. Muscle diseases. In: Goldman L, Cooney KA, eds. <em>Goldman-Cecil Medicine</em>. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 389.</p></div></div></section>
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