Myotonia congenita

Alternative names:

Thomsen's disease

Treatment:

No treatment is available for myotonia congenita. Procainamide or quinidine sulfate may partially relieve the symptoms.

Expectations (prognosis):

Affected people do well. Symptoms only occur when a movement is first started. After a few repetitions, the muscle relaxes and the movement becomes normal. Symptoms may improve later in life.

Complications:

• frequent choking, gagging, or difficulty swallowing in an infant
• aspiration pneumonia related to swallowing difficulties

Calling your health care provider:

Call for an appointment with your health care provider if symptoms of myotonia congenita develop.