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inclusion body myopathy

Epidemiology: - mean age of onset 42 years Pathology: 1) benign myopathy 3) cytoplasmic inclusions (rimmed vacuoles) by light microscopy in type 1 muscle fibers 4) myofibrillary origin of the inclusions - actin, myosin, Z-band Clinical manifestations: 1) clinical features variable 2) mild weakness of pelvic & shoulder girdles 3) weakness & atrophy of muscles in the distal extremities, neck, thorax, & shoulder girdle 4) disabilty after 5 to 10 years due to chronic respiratory failure Laboratory: 1) serum creatine kinase normal or slightly elevated Note: - OMIM reference [1] has been moved to [2] which raises question of how inclusion body myopathy differs from myofibrillar myopathy

Related

inclusion body myositis (inflammatory myositis, IBM) myofibrillar myopathy

Specific

inclusion body myopathy 2 inclusion body myopathy 3 (IBM3)

General

genetic disease of muscle (inherited myopathy)

Database Correlations

OMIM 147420

References

  1. OMIM :accession 147420
  2. OMIM :accession 601419