Myotonia congenita is an inherited neuromuscular disorder. The characteristic of the disorder is the inability of muscles to quickly relax after a voluntary contraction. The condition is present since early childhood, but symptoms can be mild. Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest. The disease doesn’t cause muscle wasting; in fact, it may cause muscle enlargement. Muscle strength is increased.
There are two forms of the disorder - Becker-type, which is the most common form; and Thomsen’s disease, which is a rare and milder form. The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles.
In the condition, the muscles are unable to quickly relax after contracting. The early symptoms of myotonia congenitamay are difficulty swallowing and gagging. Stiff movements that improve when they are repeated is another characteristic of the condition.Shortness of breath or tightening of the chest at the beginning of exercise is another sign.
Most people with myotonia congenita don’t require special treatments. Stiff muscles usually resolve with exercise, or light movement, especially after resting. For individuals whose symptoms are more limiting, doctors have had some success with medications such as quinine, or anticonvulsant drugs such as phenytoin. Physical therapy and other rehabilitative therapies are also sometimes used to improve muscle function.
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