Myopathy in Gaucher disease

Journal of Inherited Metabolic Disease
Li-Kai TsaiWuh-Liang Hwu

Abstract

Gaucher disease is a recessively inherited lysosomal storage disorder, caused by deficiency of glucocerebrosidase activity. Affected individuals usually present with hepatosplenomegaly, anaemia, thrombocytopenia, and skeletal diseases. A wide range of neurological manifestations have also been recognized in Gaucher patients including acute neurological deterioration in infancy, mental retardation, ocular motor apraxia, seizure, and parkinsonism. Although muscle weakness is not an uncommon finding in patients with Gaucher disease, the aetiology of weakness is not well understood. We prospectively investigated seven Gaucher patients and found that four of them (patients 1-4) had mild to moderate degree of proximal-predominant symmetrical muscle weakness in four limbs. By history, three patients (patients 1-3) developed insidious onset of nonprogressive muscle weakness in four limbs with easy muscle fatigue from adolescence. A needle electromyographic study detected some small, brief polyphasic waves in these four patients. Muscle biopsy in one patient (patient 1) showed a few atrophic type II muscle fibres without infiltration of Gaucher cells. Three patients (patients 1-3) continuously received enzyme replacement therapy with im...Continue Reading

References

Oct 5, 2002·Journal of Muscle Research and Cell Motility·I M P GommansB G M van Engelen
Apr 24, 2003·The Journal of Biological Chemistry·Emyr Lloyd-EvansAnthony H Futerman
Jan 7, 2004·Journal of Inherited Metabolic Disease·G M PastoresE H Kolodny
Oct 7, 2004·Molecular Genetics and Metabolism·Ellen Sidransky
Jan 15, 2005·Neurobiology of Disease·Dori PelledAnthony H Futerman
Jul 14, 2005·Current Opinion in Pediatrics·Gregory A Grabowski

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Citations

Apr 20, 2013·Rheumatic Diseases Clinics of North America·Christina LampeMaurizio Scarpa

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