Atypical presentation of GNE myopathy with asymmetric hand weakness

John Karl L. de Dios, Joseph A. Shrader, Galen O. Joe, Jeffrey C. McClean, Kayla Williams, Robert Evers, May Christine V. Malicdan, Carla Ciccone, Ami Mankodi, Marjan Huizing, John C. McKew, David A. Bluemke, William A. Gahl, Nuria Carrillo-Carrasco

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


GNE myopathy is a rare autosomal recessive muscle disease caused by mutations in GNE, the gene encoding the rate-limiting enzyme in sialic acid biosynthesis. GNE myopathy usually manifests in early adulthood with distal myopathy that progresses slowly and symmetrically, first involving distal muscles of the lower extremities, followed by proximal muscles with relative sparing of the quadriceps. Upper extremities are typically affected later in the disease. We report a patient with GNE myopathy who presented with asymmetric hand weakness. He had considerably decreased left grip strength, atrophy of the left anterior forearm and fibro-fatty tissue replacement of left forearm flexor muscles on T1-weighted magnetic resonance imaging. The patient was an endoscopist and thus the asymmetric hand involvement may be associated with left hand overuse in daily repetitive pinching and gripping movements, highlighting the possible impact of environmental factors on the progression of genetic muscle conditions.

Original languageEnglish (US)
Pages (from-to)1063-1067
Number of pages5
JournalNeuromuscular Disorders
Issue number12
StatePublished - Dec 1 2014


  • Distal myopathy with rimmed vacuoles (DMRV)
  • GNE myopathy
  • Hereditary inclusion body myopathy (HIBM)
  • Inclusion body myopathy 2
  • N-acetylmannosamine (ManNAc)
  • Nonaka myopathy
  • Sialic acid

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)


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