GTR Home > Conditions/Phenotypes > Nonaka myopathy

Disease characteristics

Excerpted from the GeneReview: GNE-Related Myopathy
GNE-related myopathy, also known as inclusion body myopathy 2, is characterized by slowly progressive distal muscle weakness that begins in the late teens to early adult years with gait disturbance and foot drop secondary to anterior tibialis muscle weakness. Weakness eventually includes the hand and thigh muscles but commonly spares the quadriceps muscles, even in advanced disease. Affected individuals are usually wheelchair bound about 20 years after onset. If quadriceps sparing is incomplete, loss of ambulation tends to occur earlier.

Associated genes

  • Also known as: DMRV, GLCNE, IBM2, NM, Uae1, GNE
    Summary: glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Clinical features

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  • Distal muscle weakness
  • Gait disturbance
  • Rimmed vacuoles
  • Deposits immunoreactive to beta-amyloid protein
  • Elevated serum creatine phosphokinase
  • EMG: myopathic abnormalities
  • Distal amyotrophy
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