An autosomal dominant early adult-onset distal muscular dystrophy.
In this study we describe an autosomal dominant distal muscular dystrophy in a small Austrian family. The myopathy started in early adulthood with a slowly progressive weakness of the muscles of the anterior tibial compartment, followed by the long finger extensors and sternocleidomastoids in some family members. Other muscles were spared. Histopathology showed fiber size variation and autophagic vacuoles. This disease pattern is similar to Laing distal myopathy, which has been described previously in only one other family.
Zimprich
F
F
Universitätsklinik für Neurologie, Allgemeines Krankenhaus der Stadt Wien, Währinger Gürtel 18-20, 1090 Vienna, Austria. friedrich.zimprich@univie.ac.at
Djamshidian
A
A
Hainfellner
J A
JA
Budka
H
H
Zeitlhofer
J
J
D000328:Adult; D017668:Age of Onset; D000368:Aged; D001284:Atrophy; D001317:Austria; D002675:Child, Preschool; D018450:Disease Progression; D004576:Electromyography; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009431:Neural Conduction