What is it?

GNE myopathy is a rare muscle disease that affects both the upper and lower limbs.

What causes it?

In people with GNE myopathy, a gene mutation causes low levels of sialic acid, a substance that helps muscle proteins function properly. Without enough sialic acid, muscles progressively weaken and many people with GNE myopathy may eventually require a wheelchair.

What are some of the common symptoms?

  • Foot drop (difficulty lifting the front part of the foot)
  • Difficulty climbing stairs or running
  • Loss of strength and muscle function

How many people have it?

It is estimated that one in 1,000,000 people worldwide are living with GNE myopathy.

Common names for GNEM1

  • Distal myopathy with rimmed vacuoles (DMRV)
  • Distal myopathy, Nonaka type
  • Hereditary inclusion body myopathy
  • Nonaka myopathy
  • Quadriceps-sparing myopathy

1 GNE myopathy. Orphanet Website. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=602. Updated September 2018. Accessed March 29, 2019.

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