What is McArdle disease?

What is McArdle disease?

Type V (five) glycogen storage disease (GSD V) is a rare inherited condition in which the body is not able to break down glycogen. Glycogen is an important source of energy that is stored in all tissues, especially in the muscles and liver. GSD V is also called McArdle disease.

How is McArdle syndrome diagnosed?

Some diagnostic tests include: Blood tests to check for muscle enzymes, such as creatine kinase. DNA blood tests for known McArdle disease mutations. Electromyography to measure the electrical activity of the muscles.

What is Anderson’s disease?

Andersen disease is also known as glycogen storage disease (GSD) type IV. It is caused by deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, and/or other tissues.

Can adults have a glycogen storage disease?

Background: Glycogen storage disease type I (GSD I) is a chronic metabolic disease that requires a lifelong strict dietetic treatment to avoid hypoglycemia and can lead to severe complications during adult age.

McArdle disease is an inherited disease. It results from changes (mutations) in the gene for the enzyme muscle phosphorylase. Your muscle cells can’t make this enzyme. So they can’t break down glycogen into glucose. Your muscles need glucose to work their best.

Is McArdle disease dominant or recessive?

In most cases, a person with McArdle disease needs to have 2 copies of a mutated gene. This is recessive inheritance. A person who has only 1 copy of the mutated gene may still have some symptoms of McArdle disease. What are the symptoms of McArdle disease? McArdle disease causes muscle symptoms.

How is McArdle disease diagnosed?

Some diagnostic tests include: Electromyography to measure the electrical activity of the muscles You may first see your main healthcare provider who may then refer you to a specialist, such as a neurologist. While the symptoms often appear in childhood, McArdle disease is rare.

What are the symptoms of McArdle syndrome?

The symptoms of McArdle Syndrome are usually variable, but may include exercise intolerance, severe fatigue, painful muscle cramping, which may be triggered by activities like lifting or running.