Nonaka distal myopathy
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Epidemiology
- onset in early adulthood
- common in Japan
Pathology
- rimmed vacuole myopathy, no inflammation
- acid-phosphatase active autophagocytosis
- concentric lamellar bodies
- nuclear tubulofilamentous inclusions on electron microscopy
- deposits immunoreactive for beta-amyloid protein, ubiquitin, & tau protein
- no regeneration
- no central nervous system disease
Genetics
- autosomal recessive
- defect in GNE gene
Clinical manifestations
- muscular dystrophy with predilection for distal muscles, especially the anterior tibial muscles
- rapid clinical progression
- hamstring & tibialis anterior muscles are affected severely, quadriceps muscles are spared even in a late stage
Laboratory
- serum creatine kinase mildly increased