Glycogen storage disease type V

From WikiMD's Wellnesspedia

Glycogen Storage Disease Type V (also known as McArdle's Disease) is a rare genetic disorder characterized by a deficiency in the enzyme myophosphorylase. This enzyme is necessary for the breakdown of glycogen in muscle cells. The lack of this enzyme leads to symptoms such as muscle weakness and cramps.

Symptoms[edit | edit source]

The symptoms of Glycogen Storage Disease Type V typically begin in childhood or adolescence. They include:

Causes[edit | edit source]

Glycogen Storage Disease Type V is caused by mutations in the PYGM gene. This gene provides instructions for making the enzyme myophosphorylase, which is necessary for the breakdown of glycogen in muscle cells. When mutations occur in the PYGM gene, the enzyme's activity is reduced or eliminated, preventing the breakdown of glycogen and leading to the symptoms of the disease.

Diagnosis[edit | edit source]

Diagnosis of Glycogen Storage Disease Type V is typically made through a combination of clinical examination, laboratory testing, and genetic testing. The Forearm ischemic exercise test is a common diagnostic tool used to identify the disease.

Treatment[edit | edit source]

There is currently no cure for Glycogen Storage Disease Type V. Treatment is focused on managing symptoms and includes:

See also[edit | edit source]

References[edit | edit source]


External links[edit | edit source]


Glycogen storage disease type V Resources

Find a healthcare provider anywhere in the world quickly and easily!

Wiki.png

Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD


Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD

WikiMD is not a substitute for professional medical advice. See full disclaimer.

Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.


Contributors: Admin, Prab R. Tumpati, MD