McArdle disease

  • Definition
    • McArdle disease 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.

      McArdle disease is also called type V glycogen storage disease.

  • Alternative Names
    • Glycogen storage disease type V (GSDV); Myophosphorylase deficiency; Muscle glycogen phosphorylase deficiency; PYGM deficiency

  • Causes
    • McArdle disease is caused by a flaw in the gene that makes an enzyme called glycogen phosphorylase. As a result, the body cannot break down glycogen in the muscles.

      The disease is an autosomal recessive genetic disorder. This means that you must receive a copy of the nonworking gene from both parents. A person who receives a nonworking gene from only one parent usually does not develop this syndrome. A family history of McArdle disease increases the risk.

  • Symptoms
    • Symptoms usually start during early childhood. But, it may be difficult to separate these symptoms from those of normal childhood, and diagnosis may not occur until a person is over 20 or 30 years old.

      • Burgundy-colored urine (myoglobinuria)
      • Fatigue
      • Exercise intolerance, poor stamina
      • Muscle cramps
      • Muscle pain
      • Muscle stiffness
      • Muscle weakness
  • Exams and Tests
  • Treatment
    • There is no specific treatment.

      The health care provider may suggest the following to stay active and healthy and prevent symptoms:

      • Be aware of your physical limitations.
      • Before exercising, warm up gently.
      • Avoid exercising too hard or too long.
      • Eat enough protein.

      Ask your provider if it's a good idea to eat some sugar before exercising. This may help prevent muscle symptoms.

      If you need to have surgery, ask your provider if it's OK for you to have general anesthesia.

  • Support Groups
  • Outlook (Prognosis)
    • People with McArdle disease can live a normal life by managing their diet and physical activity.

  • Possible Complications
    • Exercise may produce muscle pain, or even a breakdown of skeletal muscle (rhabdomyolysis). This condition is associated with burgundy-colored urine and a risk for kidney failure, if it is severe.

  • When to Contact a Medical Professional
    • Contact your provider if you have repeated episodes of sore or cramped muscles after exercise, especially if you also have burgundy or pink urine.

      Consider genetic counseling if you have a family history of McArdle disease.

  • References
    • Kishnani PS, Chen, YT. Defects in metabolism of carbohydrates. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2015:chap 87.

      Weinstein DA. Glycogen storage diseases. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 207.