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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the SCN4A gene cause paramyotonia congenita. This gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contractions are triggered by the flow of positively charged atoms (ions), including sodium, into skeletal muscle cells. The SCN4A protein forms channels that control the flow of sodium ions into these cells.</p><p>Mutations in the SCN4A gene alter the usual structure and function of sodium channels. The altered channels cannot effectively regulate the flow of sodium ions into skeletal muscle cells. The resulting increase in ion flow interferes with normal muscle contraction and relaxation, leading to episodes of muscle stiffness and weakness.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/paramyotonia-congenita/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Paramyotonia congenita?"},{"bodyHtml":"<p>Most people, even those without muscle disease, feel that their muscles do not work as well when they are cold. This effect is dramatic in people with paramyotonia congenita. Exposure to cold initially causes muscle stiffness in these individuals, and prolonged cold exposure leads to temporary episodes of mild to severe muscle weakness that may last for several hours at a time. Some older people with paramyotonia congenita develop permanent muscle weakness that can be disabling.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/paramyotonia-congenita\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"paramyotonia-congenita","sourceDocuments":[{"name":"Paramyotonia congenita","reviewed":"2007-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:03.634208+00:00","label":"Causes","pageSha256":"50558662b4fc2292140f9fd4bc40e427673a12f42b2f869da19f7d25be9729af","sourceUrl":"https://medlineplus.gov/genetics/condition/paramyotonia-congenita/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/paramyotonia-congenita"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Paramyotonia congenita"},"schemaVersion":1}