Congenital myopathy: Myotonia congenita is a genetic, neuromuscular disorder characterized by the slow relaxation of the muscles. Symptoms may include ... more about Congenital myopathy.
Congenital myopathy: A very rare inherited disorder where muscles are overly-responsive to stimuli because of an abnormality in the muscle membranes. It causes prolonged muscle contraction which is muscle stiffness. The two main forms of myotonia congenital are Thomsen and Becker disease which are respectively inherited dominantly and recessively. More detailed information about the symptoms, causes, and treatments of Congenital myopathy is available below.
See full list of 6 symptoms of Congenital myopathy
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Prognosis for Congenital myopathy: clumsiness which becomes worse after 2nd or 3rd decade
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Myotonia congenita is a genetic, neuromuscular disorder characterized by the slow relaxation of the muscles. Symptoms may include muscle stiffness and hypertrophy (enlargement). The disorder is caused by a genetic mutation involving the chloride channel of the muscles. The muscle stiffness, which particularly occurs in the leg muscles, may be enhanced by cold and inactivity, and is often relieved by exercise. (Source: excerpt from NINDS Myotonia Congenita Information Page: NINDS)
Congenital myopathy is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Congenital myopathy, or a subtype of Congenital myopathy,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
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