Proximal myopathy with extrapyramidal signs

MONDO:0014300

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.

Also known as: MPXPS, myopathy with extrapyramidal signs

14 clinical trials for this condition and its sub-types, 0 tagged with Proximal myopathy with extrapyramidal signs itself.

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↑ Hereditary neurological disease (5791) ↑ Myopathy (990) ↑ Movement disorder (805) ↑ Hereditary skeletal muscle disorder (406)

Including sub-types (14) Tagged with Proximal myopathy with extrapyramidal signs (0)

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