Congenital Myotonia

Congenital myotonia (Thomsen disease, autosomal dominant chloride-channel disorder) is characterized by delayed muscle relaxation (myotonia) and muscle stiffness after voluntary contraction, improving with repeated activity ('warm-up' phenomenon), with muscle hypertrophy. Onset in childhood. Treatment: mexiletine/quinine/carbamazepine reduce myotonia; warm-up exercise; avoid cold/ketogenic triggers; genetic counseling.

Common Symptoms

Delayed muscle relaxation; stiffness after contraction; warm-up improvement; muscle hypertrophy; childhood onset

Causes and Pathogenesis

Chloride-channel (CLCN1) mutation causes muscle-membrane hyperexcitability and myotonia.

Treatment

Mexiletine/quinine/carbamazepine; warm-up exercise; avoid triggers; genetic counseling

Preventive Measures

Warm-up; avoid cold; medication adherence.

Department to Visit

It is recommended to visit the Neurology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.