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Up to: Hereditary neurological disease · Myopathy · Movement disorder · Hereditary skeletal muscle disorder
Proximal myopathy with extrapyramidal signs
Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy.
This condition has no sub-types.