What is McArdle disease?

What is McArdle disease?

McArdle disease is a rare muscle disorder. In this disease, the muscle cells can’t break down a complex sugar called glycogen. It is part of a group of diseases called glycogen storage diseases. Another name for McArdle disease is glycogen storage disease type 5 (GSD 5 or GSD V).

What are the symptoms of McArdle syndrome?


  • Burgundy-colored urine (myoglobinuria)
  • Fatigue.
  • Exercise intolerance, poor stamina.
  • Muscle cramps.
  • Muscle pain.
  • Muscle stiffness.
  • Muscle weakness.

Is McArdle disease dominant or recessive?

Inheritance. McArdle disease is inherited in an autosomal recessive manner; the parents of an affected child are obligate heterozygotes and therefore carry one mutant allele.

What is the life expectancy of someone with McArdle’s Disease?

The majority of people with McArdle’s Disease will not become disabled. Normally, there is weakness associated with the loss of muscle tissue, but the majority of people remain independent and able to walk. McArdle’s Disease does not affect life expectancy.

What are the treatment options for an individual with McArdle disease?

Types of treatment There is no cure for McArdle disease. Diet and exercise changes can help control it. A low or moderate exercise routine may help. This lets your body get the most out of your ability to use glucose.

Is McArdle’s disease progressive?

Clinical heterogeneity is observed; some patients have extremely mild symptoms that manifest as tiredness without cramps. In others, progressive weakness starts in the sixth or seventh decade of life. In contrast, the severe rapidly progressive form (fatal infantile McArdle syndrome) manifests shortly after birth.

Can McArdle’s disease be cured?

There is no cure for McArdle disease. But you may be able to use certain diet and exercise strategies to help control the problem. A well-designed low or moderate exercise routine may help your body get the most out of your ability to use glucose.

How common is McArdle disease?

McArdle disease is one of the most common glycogen storage disorders. Although the exact prevalence is not known, it has been estimated to be 1 in 100,000 patients in the United States. More than 100 mutations in PYGM have been associated with this disorder.

Is McArdle’s disease a disability?

McArdle’s disease is a disabling condition affecting patients’ QoL. Treatment with ramipril improves disability and modifies exercise physiology only in D/D patients, raising the possibility of a differential haplotype-linked sensitivity to the treatment.