Current Neurology and Neuroscience Reports

, Volume 5, Issue 1, pp 61–65

Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy

Authors

  • Ikuya Nonaka
    • Division of Neuromuscular ResearchNational Institute of Neuroscience, National Center of Neurology and Psychiatry
  • Satoru Noguchi
    • Division of Neuromuscular ResearchNational Institute of Neuroscience, National Center of Neurology and Psychiatry
  • Ichizo Nishino
    • Division of Neuromuscular ResearchNational Institute of Neuroscience, National Center of Neurology and Psychiatry
Article

DOI: 10.1007/s11910-005-0025-0

Cite this article as:
Nonaka, I., Noguchi, S. & Nishino, I. Curr Neurol Neurosci Rep (2005) 5: 61. doi:10.1007/s11910-005-0025-0

Abstract

Distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (hIBM) share similar clinical features, including onset in young adulthood with preferential involvement of the anterior compartment of the lower legs and sparing of the quadriceps femoris muscles. The most significant muscle pathology is the presence of rimmed vacuoles, which appear to play a major role in muscle atrophy and weakness. After the discovery of the gene locus in both DMRV and hIBM on chromosome 9 and mutations in the gene encoding the enzyme UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), it became clear that they are allelic disorders. From gene analysis, it is evident that these diseases are not restricted to people of Japanese and Jewish ancestry, but that they are widely distributed throughout all ethnic groups. Although defective glycosylation to a muscle fiber has been suggested, the mechanism by which myofibrillar degeneration is followed by rimmed vacuole formation remains to be clarified.

Copyright information

© Current Science Inc. 2005