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GENATLAS PHENOTYPE

last update : 29-08-2023

Symbol	WDM
Location	2p13.3
Name	Welander distal myopathy
Other name(s)	muscular dystrophy, distal, late-onset myopathy, distal, Swedish
Corresponding gene	TIA1
Main clinical features	adult onset, with slow progression of distal muscle weakness, in swedish 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
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)