McArdle disease is a genetic disorder in which the body cannot break down glycogen in the muscles. The disease results from a defect in a gene required for producing an enzyme called muscle phosphorylase (myophosphorylase). This enzyme is required to breakdown glycogen, an important source of energy that is stored in muscle tissue. This results in abnormal accumulation of glycogen in tissues.
McArdle disease (McArdle’s disease) is also known as McArdle syndrome or Glycogen storage disease type V (GSD-V). Its incidence is reported as 1 in 100,000.
McArdle disease is inherited in an autosomal recessive pattern, i.e. a copy of the defective gene from both parents is required for the child to develop the serious ailment. Many people carry one copy of the abnormal gene. Two abnormal copies are needed for McArdle disease to develop. Genetic mutations in the PYGM gene are found in individuals with McArdle disease.
McArdle disease is approximately equally represented in both sexes. Symptoms usually first develop in adulthood (sometimes early or late childhood). Exercise intolerance with muscle cramps is common. A definitive diagnosis usually requires a biochemical assay. No particular race is at a high risk of acquiring the disease.
In general, no permanent cure exists for McArdle disease. The role of a high protein diet in increasing exercise tolerance is controversial. The disease does not appear to affect longevity.
Latest Publication and Research on McArdle DiseaseIdentification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. - Published by PubMed
Long-distance relationships: do membrane nanotubes regulate cell-cell communication and disease progression? - Published by PubMed
McArdle's disease (glycogen storage disease type V) and anesthesia - a case report and review of the literature. - Published by PubMed
Carnitine Palmitoyl Transferase Deficiency - Unrecognized Cause of Recurrent Acute Kidney Injury. - Published by PubMed
Advances in Exercise, Fitness, and Performance Genomics in 2012. - Published by PubMed