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X-linked scapuloperoneal muscular dystrophy

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description X-linked scapuloperoneal muscular dystrophy (X-linked SPMD) is a skeletal muscle disease characterized by late onset, co-occurrence of scapular and peroneal muscle weakness, and scapular winging.
Uniprot Description A disease characterized by progressive muscle weakness and wasting, upper and lower limbs weakness, foot drop, scapular winging, and myopathic changes on muscle biopsy. Most affected individuals become wheelchair-bound.
Mondo Term and Equivalent IDs
MONDO:0010400:  X-linked scapuloperoneal muscular dystrophy
GARD:0007608: 
Orphanet:431272: 
UMLS:C2678061: