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distal myopathy, Welander type

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors.
Uniprot Description An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement.
Mondo Term and Equivalent IDs
MONDO:0011466:  distal myopathy, Welander type
GARD:0005552: 
Orphanet:603: 
UMLS:CN205368: