Atypical presentation of GNE myopathy with asymmetric hand weakness |
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| Institution: | 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;1. Centre for Food and Nutrition Research, IMPM, P O Box 6163, Yaoundé, Cameroon;2. Faculty of Medicine and Biomedical Sciences, University of Yaoundé 1, Cameroon;1. Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, Oxford, UK;2. Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, The John Radcliffe Hospital, Oxford, UK;3. The Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, UK;4. Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, UK;5. Department of Paediatric Neurology, Children’s Hospital, John Radcliffe Hospital, Oxford, UK;6. Department of Neuropathology and Ocular Pathology, John Radcliffe Hospital, Oxford, UK;7. Department of Paediatric Neurology, Royal Hospital for Sick Children, Glasgow, UK;1. Department of Otorhinolaryngology, Head and Neck Surgery, Maastricht University Medical Center, Maastricht, The Netherlands;2. Department of Methodology and Statistics, Maastricht University, Maastricht, The Netherlands;3. Emergency Department, Erasmus Medical Center, Rotterdam, The Netherlands;4. Department of Radiation Oncology (MAASTRO), GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, The Netherlands;5. Department of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands |
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| 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. |
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| Keywords: | GNE myopathy Inclusion body myopathy 2 Hereditary inclusion body myopathy (HIBM) Nonaka myopathy Distal myopathy with rimmed vacuoles (DMRV) N-acetylmannosamine (ManNAc) Sialic acid |
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