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    McArdle syndrome

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

    McArdle syndrome is the inability to break down glycogen. Glycogen is an important source of energy that is stored in all tissues, but especially in the muscles and liver.

    Causes

    McArdle syndrome is caused by a defect in a 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 get a copy of the nonworking gene from both parents. A person who gets a nonworking gene from only one parent usually does not develop this syndrome. A family history of McArdle syndrome increases the risk.

    Symptoms

    Symptoms usually start during early childhood. However, it may be difficult to separate these symptoms from those of normal childhood, and diagnosis may not occur until a person's 20s or 30s.

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

    Exams and Tests

    The following tests may be performed:

    • Electromyography (EMG)
    • Genetic testing
    • Lactic acid in blood
    • MRI
    • Muscle biopsy
    • Myoglobin in urine
    • Plasma ammonia
    • Serum creatine kinase

    Treatment

    There is no specific treatment, but you can manage the symptoms by improving exercise tolerance and controlling physical activity. Avoid excessive or intense exercise.

    Dietary management should include having a supply of glucose (candy, for example) on hand if you need to replace energy.

    Avoid general anesthesia.

    Support Groups

    For additional information and resources, visit the Association for Glycogen Storage Disease at www.agsdus.org.

    Outlook (Prognosis)

    People with McArdle syndrome can live a normal life by managing their 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 health care 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

    Sarnat HB. Metabolic myopathies. In: Kliegman Rm, Stanton BF, St. Geme J, Schor N, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: 2011:chap 603.

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                Review Date: 2/2/2012

                Reviewed By: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

                The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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