GENETIC ENCYCLOPEDIA
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disease: Glycogen storage disease, type V

id2239
nameGlycogen storage disease, type V
descriptionGlycogen storage disease type V (GSDV, McArdle disease) is a metabolic myopathy characterized by exercise intolerance manifested by rapid fatigue, myalgia, and cramps in exercising muscles. Symptoms usually are precipitated by isometric exercise or sustained aerobic exercise. Most individuals improve their exercise tolerance by exploiting the "second wind" phenomenon with relief of myalgia and fatigue after a few minutes of rest. Age of onset is frequently in the first decade of life but can vary. Fixed muscle weakness occurs in approximately 25% of affected individuals, is more likely to involve proximal muscles, and is more common in individuals of advanced age. Approximately 50% of affected individuals have recurrent episodes of myoglobinuria that could eventually result in acute renal failure, although reported cases are rare.
variant-disease NM_005609.3(PYGM):c.2056G>A (p.Gly686Arg) AND Glycogen storage disease, type V
NM_005609.3(PYGM):c.1A>G (p.Met1Val) AND Glycogen storage disease, type V
NM_005609.3(PYGM):c.1722T>G (p.Tyr574Ter) AND Glycogen storage disease, type V
NM_005609.3(PYGM):c.-668C>T AND Glycogen storage disease, type V
NM_005609.3(PYGM):c.98A>G (p.Asn33Ser) AND Glycogen storage disease, type V
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