proximal myopathy with extrapyramidal signs

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Disease Overview

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.


Synonyms

  • MPXPS
  • myopathy with extrapyramidal signsMPXPS
  • myopathy with extrapyramidal signs