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.
MONDO:0005336
myopathy
is_a
MONDO:0005395
movement disorder
is_a
MONDO:0100545
hereditary neurological disease
is_a
MONDO:0700223
hereditary skeletal muscle disorder
is_a
MPXPS
related
myopathy with extrapyramidal signs
related