
McArdle Disease (GSD5): What It Is, Symptoms & Treatment - Cleveland Clinic
Feb 7, 2024 · 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 (Glycogen Storage Disease Type 5)
Jan 22, 2025 · McArdle disease, also known as glycogen storage disorder (GSD) type 5, is a rare inherited metabolic disorder primarily affecting skeletal muscles. This condition arises from a deficiency or complete lack of the enzyme muscle glycogen phosphorylase (myophosphorylase), essential for breaking down glycogen into glucose, the primary energy fuel ...
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 - GeneReviews® - NCBI Bookshelf
Apr 19, 2006 · 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.
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 - Muscular Dystrophy UK
McArdle disease, also known as glycogen storage disease type V (GSDV), is a rare inherited metabolic muscle disease, which happens when the body doesn’t have enough of an enzyme called muscle glycogen phosphorylase. Learn about symptoms, diagnosis, and management.
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 …
McArdle Disease - StatPearls - NCBI Bookshelf
Feb 5, 2023 · McArdle disease, also known as glycogen storage disorder (GSD) type V, is an inborn metabolic disorder characterized by a deficiency or complete absence of an enzyme called muscle glycogen phosphorylase (or myophosphorylase).
McArdle disease Information | Mount Sinai - New York
Learn about McArdle disease, find a doctor, complications, outcomes, recovery and follow-up care for McArdle disease.