Hereditary inclusion-body myopathy associated with cardiomyopathy: report of two siblings

Muscle Nerve. 2011 Jan;43(1):133-6. doi: 10.1002/mus.21839.

Abstract

Hereditary inclusion-body myopathy (HIBM) or distal myopathy with rimmed vacuoles (DMRV) is an autosomal recessive disorder characterized by preferential involvement of distal muscles in the lower extremities, especially the anterior compartment of the legs, with relative preservation of the quadriceps.This is referred to as quadriceps-sparing myopathy. Previous reports have revealed exclusive involvement in skeletal muscles. Herein we describe two siblings with typical HIBM/DMRV. The patients developed exertional dyspnea 20-26 years after disease onset. Echocardiogram revealed a cardiomyopathy in both patients. This is the first report of the association between HIBM/DMRV and cardiomyopathy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cardiomyopathies / diagnostic imaging
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / physiopathology*
  • Dyspnea / genetics
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Multienzyme Complexes / genetics*
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / physiopathology
  • Myositis, Inclusion Body / complications
  • Myositis, Inclusion Body / congenital
  • Myositis, Inclusion Body / genetics
  • Myositis, Inclusion Body / physiopathology
  • Siblings
  • Ultrasonography

Substances

  • Multienzyme Complexes
  • UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase

Supplementary concepts

  • Inclusion body myopathy autosomal recessive