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.

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 (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.

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.

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.

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 …

Feb 5, 2023 · 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.

McArdle disease is a muscle disorder in which the muscles cannot break down stored glycogen due to the absence of myophosphorylase. Learn more about it here.

McArdle disease is a genetic disorder that mainly affects skeletal muscles. It occurs due to the deficiency or absence of an enzyme called myophosphorylase, a key substance that the muscles need to break down glycogen into sugar (glucose) for energy.

McArdle disease is an autosomal recessive disorder caused by mutations in the PYGM gene, which encodes the myophosphorylase enzyme. Individuals with the disease inherit two defective copies of the gene, one from each parent.