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Home > West Medicine > Internal Medicine > Neurology

Classroom classification

百科

Congenital paramyotonia congenita

神经内科

Common symptoms

无力、面肌强直

The pathology of disease

Paramyotonia congenita is cold-induced myotonia (worsens with repeated contraction); SCN4A sodium channel; autosomal dominant; episodic weakness; avoid cold.

Symptoms

Myotonia; worse with cold/repeated contraction; weakness episodes; AD; face/limbs; no atrophy

Causes

SCN4A sodium channel mutation; autosomal dominant; skeletal muscle channelopathy.

Treatment

Avoid cold; mexiletine; treat episodic weakness; neurology; genetics

Dept

Neurology / genetics.

Warm reminder: Health education reference only; seek care at regular hospital.

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