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Neuromuscul Disord. 2014 Dec;24(12):1063-7. doi: 10.1016/j.nmd.2014.07.006. Epub 2014 Aug 7.

Atypical presentation of GNE myopathy with asymmetric hand weakness.

Author information

1
Medical Genetics Branch (MGB), National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), USA.
2
Department of Rehabilitation Medicine, NIH Clinical Center, USA.
3
Department of Neurology, San Antonio Military Medical Center, USA.
4
Radiology and Imaging Sciences, NIH Clinical Center, USA.
5
National Institute of Neurological Disorders and Stroke (NINDS), NIH, USA.
6
Therapeutics for Rare and Neglected Diseases (TRND), National Center for Advancing Translational Sciences (NCATS), NIH, USA.
7
Therapeutics for Rare and Neglected Diseases (TRND), National Center for Advancing Translational Sciences (NCATS), NIH, USA. Electronic address: carrilln@mail.nih.gov.

Abstract

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.

KEYWORDS:

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

PMID:
25182749
PMCID:
PMC4259851
DOI:
10.1016/j.nmd.2014.07.006
[Indexed for MEDLINE]
Free PMC Article

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