Atypical presentation of GNE myopathy with asymmetric hand weakness
| Autor: | John C. McKew, Nuria Carrillo-Carrasco, Kayla Williams, William A. Gahl, May Christine V. Malicdan, John Karl L. de Dios, Carla Ciccone, Galen O. Joe, Marjan Huizing, Jeffrey C. McClean, David A. Bluemke, Ami Mankodi, Robert Evers, Joseph A. Shrader |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Adult
Male Cumulative Trauma Disorders Article Grip strength Atrophy Muscular Diseases Forearm Multienzyme Complexes medicine Humans Muscle Skeletal Myopathy Genetics (clinical) Muscle Weakness medicine.diagnostic_test business.industry Muscle weakness Magnetic resonance imaging GNE MYOPATHY Anatomy Hand medicine.disease Magnetic Resonance Imaging body regions medicine.anatomical_structure Neurology Pediatrics Perinatology and Child Health Neurology (clinical) Presentation (obstetrics) medicine.symptom business Follow-Up Studies |
| Zdroj: | Neuromuscular Disorders. 24:1063-1067 |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2014.07.006 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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