Disease ID | Source | Name | Description |
604454 | OMIM | Welander distal myopathy (WDM) | 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. The disease is caused by variants affecting the gene represented in this entry. |