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inclusion body myopathy 2
Epidemiology:
- mean age of onset 20-35 years
Pathology:
1) rimmed vacuole myopathy, no inflammation
2) degenerating muscle fibers with abnormal accumulations of beta-amyloid protein
3) no central nervous system disease
Genetics:
1) autosomal recessive
2) defect in GNE gene
Clinical manifestations:
1) proximal & distal muscle weakness, gait difficulties
2) progressive wasting of the upper & lower limbs, progression gradual
3) severe incapacitation within 10-20 years
4) muscles of the shoulder girdle severely affected in advanced cases, with relative sparing of deltoid, biceps, & triceps
5) sparing of the quadriceps muscles even in advanced stages of disease
6) ocular, pharyngeal, & cardiac muscles not involved
Laboratory:
1) serum creatine kinase normal or slightly elevated
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 myositis (inflammatory myositis, IBM)
General
inclusion body myopathy
Database Correlations
OMIM 600737
References
OMIM :accession 600737