McArdle Disease (GSD5): What It Is, Symptoms & Treatment - Cleveland Clinic
2024年2月7日 · McArdle disease happens when you have a deficiency or complete lack of an enzyme called muscle glycogen phosphorylase (myophosphorylase). This issue causes symptoms like painful muscle cramps and weakness, especially during physical activity.
McArdle Disease - StatPearls - NCBI Bookshelf
2023年2月5日 · McArdle disease is a genetic disorder that mainly affects skeletal muscles. It occurs due to the deficiency or absence of an enzyme called myophosphorylase. Symptoms like painful muscle cramps, weakness, and fatigue manifest during periods of physical activity.
Glycogen storage disease type V - Wikipedia
Glycogen storage disease type V (GSD5, GSD-V), [1] also known as McArdle's disease, [2] is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase.
McArdle Disease - Cedars-Sinai
Key points about McArdle disease. McArdle disease (GSD 5) is a rare, genetic muscle disorder. It is an inherited disease. It is a type of glycogen storage disease. It results from a lack of a key substance that the muscles need to break down glycogen into sugar (glucose) for energy.
Glycogen storage disease type V - MedlinePlus
Glycogen storage disease type V (also known as GSDV or McArdle disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. Explore symptoms, inheritance, genetics of this condition.
McArdle disease | Description, Symptoms, & Treatment | Britannica
McArdle disease, rare hereditary deficiency of the enzyme glycogen phosphorylase in muscle cells. In the absence of this enzyme, muscles cannot break down glycogen to meet the energy requirements of exercise. Learn more about the cause, symptoms, and treatment of …
Phosphorylase deficiency (McArdle disease) - Types of Metabolic ...
What is phosphorylase deficiency (McArdle disease, myophosphorylase deficiency, glycogenosis type 5)? This disease is one of a group of metabolic muscle diseases that interferes with the processing of food (in this case, carbohydrates) for energy production.
McArdle disease Information | Mount Sinai - New York
Learn about McArdle disease, find a doctor, complications, outcomes, recovery and follow-up care for McArdle disease.
Glycogen Storage Disease Type V - GeneReviews® - NCBI Bookshelf
2006年4月19日 · Glycogen 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 are usually precipitated by isometric exercise or sustained aerobic exercise.
McArdle Disease - Kettering Health
In McArdle disease, the muscle cells can’t effectively store energy. Read on to learn more. What is McArdle disease? McArdle disease is a rare muscle disorder. In this disease, the muscle cells can’t break down a complex sugar called glycogen. It is part of a group of diseases called glycogen storage diseases.
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