Have questions? Visit https://www.reddit.com/r/SNPedia

McArdle disease

From SNPedia

At a minimum, these SNPs are known to be related, and others may also be

 Max Magnitude

McArdle disease, also known as glycogen storage disease type V, GSD5 or GSDV, is caused by recessively inherited mutations in the PYGM gene located on chromosome 11.Wikipedia

Pathogenic mutations in the PYGM gene are considered actionable by ClinGen; see ClinGen Actionability GSD5.

People with GSDV typically experience fatigue, muscle pain, and cramps during the first few minutes of exercise (exercise intolerance). Exercise such as weight lifting or jogging usually triggers these symptoms in affected individuals. The discomfort is generally alleviated with rest. If individuals rest after brief exercise and wait for their pain to go away, they can usually resume exercising with little or no discomfort (a characteristic phenomenon known as "second wind"). Prolonged or intense exercise can cause muscle damage in people with GSDV. About half of people with GSDV experience breakdown of muscle tissue (rhabdomyolysis).GHR