Search
Nonaka distal myopathy
Epidemiology:
1) onset in early adulthood
2) common in Japan
Pathology:
1) rimmed vacuole myopathy, no inflammation
- acid-phosphatase active autophagocytosis
2) concentric lamellar bodies
3) nuclear tubulofilamentous inclusions on electron microscopy
- deposits immunoreactive for beta-amyloid protein, ubiquitin, & tau protein
4) no regeneration
5) no central nervous system disease
Genetics:
1) autosomal recessive
2) defect in GNE gene
Clinical manifestations:
1) muscular dystrophy with predilection for distal muscles, especially the anterior tibial muscles
2) rapid clinical progression
3) hamstring & tibialis anterior muscles are affected severely, quadriceps muscles are spared even in a late stage
Laboratory:
1) serum creatine kinase mildly increased
Related
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; UDP-GlcNAc-2-epimerase/manAc kinase; includes: UDP-N-acetylglucosamine 2-epimerase; UDP-GlcNAc-2-epimerase; uridine diphosphate-N-acetylglucosamine-2-epimerase; N-acetylmannosamine kinase; manAc kinase (GNE, GLCNE)
inclusion body myopathy 2
General
genetic disease of muscle (inherited myopathy)
tauopathy
Database Correlations
OMIM 605820
References
OMIM :accession 605820