Markesbery (Late adult onset type IIb) Distal myopathy

Overview

●ZASP 17 Epidemiology: English, French & Finnish families Genetics Mutation: A165V; Common in European families Allelic disorders Clinical Onset age: > 40 years Weakness Early: Distal legs Hands: Distal finger & wrist extensors Late: Proximal arms & legs Progression Slow: Slower in Finnish tibial type Disability common Cardiomyopathy: Occasional patient Laboratory Serum CK: Normal or Slightly elevated Muscle pathology: Rimmed vacuoles MRI

OMIM Entries

External Resources