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Myopathy with extrapyramidal signs is a disorder characterized by early childhood onset of proximal muscle weakness (muscles closest to the body’s midline) and learning disabilities. The muscle weakness does not progress, but most patients develop progressive atypical involuntary muscle contractions that influence gait, movement, and posture (extrapyramidal signs) that may be disabling. Signs and symptoms are variable and include brief, repetitive, jerky and uncontrolled movements caused by muscle contractions (chorea), tremor, abnormal posturing, and involuntary repetitive movements of the mouth and face. Other symptoms may include uncoordinated movements (ataxia), a very small head (microcephaly), drooping of the eyelids, wasting of the eye nerve (optic atrophy), and axonal peripheral neuropathy. It is caused by changes (mutations) in the MICU1 gene and is inherited in an autosomal recessive pattern.
Source: GARD Last updated on 05-01-20
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