Meet Sandy and hear about her journey to diagnosis and how she manages her life with GNE Myopathy

As someone who grew up playing sports, Sandy denied anything was wrong when she displayed symptoms of GNE myopathy (GNEM) while pregnant with her daughter. When people noticed she was limping, she sought help to figure out what was happening. Sandy saw physicians at world-renowned facilities, but they could not find the cause of her symptoms. Through this challenging journey, she learned to be her own advocate and eventually got an official GNEM diagnosis that gave her hope to keep going.

GNE Myopathy (GNEM)

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. Updated September 2018. Accessed March 29, 2019.

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