Myotonia

Legs | Rheumatology | Myotonia (Disease)


Description

Myotonia is a muscle abnormality characterized by abnormally slow decontraction. Myotonia appears after a normal contraction when the muscle does not manage to relax. For example if a patient is required to raise his fist hard, he can not relax it suddenly.

Myotonia is favored by cold. Early symptoms may include: difficulty swallowing, gagging, stiff movements that improve when they are repeated, shortness of breath or tightening of the chest at the beginning of exercise. Children with myotonia congenita often look muscular and well-developed. They may not have symptoms of myotonia congenita until age 2 or 3.

Causes and Risk factors

Myotonia congenita is caused by a genetic change (mutation). It is passed down from either one or both parents to their children (inherited). 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 stiffness called myotonia. The hallmark of this condition is myotonia -- 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 his hand.

Diagnosis and Treatment

Mexiletine is a medication that treats symptoms of myotonia congenita. Other treatments include: Phenytoin, Procainamide, Quinine, Tocainide.

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