Definition:
Dystrophia myotonica is categorized as an extremely rare genetic disorder that is characterized by muscle atrophy, myotonia, hypogonadism and cataracts. This is primarily caused by a multi-system, autonomic dominant disorder that can significantly affect the skeletal muscles that largely affects the central nervous system as well as other body parts.
Treatment:
There are currently no treatments for Dystrophy Myotonic.
Symptoms and Signs:
Among the common symptoms associated with Dystrophia myotonica include muscle degeneration and weakness, myotonia, muscle atrophy, amenorrhea, cataract, gonadal insufficiency, dysmenorrhea, myopathic face as well as testicular atrophy. Severe cases may also include some psychomotor retardation, infant edema and hematoma.
Causes:
As discussed, Dystrophia myotonica is an autosomal dominant and multi-systme disorder. The affected individual usually have an increased the number of copies of the mutated portion of the gene.
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