Glycogen storage disease type V

Definition

McArdle syndrome is the inability to break down glycogen. Glycogen an important source of energy that is stored in muscle tissue.

Alternative Names

Causes

McArdle syndrome results from a defect in a gene that makes a protein called glycogen phosphorylase. As a result, the body cannot break down glycogen in the muscles. This may lead to weakness, cramps, and muscle pain.

The disease is an autosomal recessive genetic disorder. This means that you get a copy of the defective gene from both parents. A person who gets a defective gene from only one parent usually does not develop this syndrome.

A family history of McArdle syndrome increases the risk.

Symptoms

The symptoms usually begin as a young adult. They may include:

• Muscle pain
• Muscle cramps
• Muscle stiffness
• Muscle weakness
• Intolerance for exercise
• Exercise can produce a burgundy-colored urine (myoglobinuria)

The symptoms can be reduced by avoiding strenuous exercise.

Exams and Tests

The following tests may be performed:

• Lactic acid in blood
• Myoglobin in urine
• Serum creatine kinase
• Muscle biopsy
• Electromyography (EMG)
• MRI
• Genetic testing (enzyme and DNA)

Treatment

There is no specific treatment, but the symptoms can be managed by controlling exercise and physical activity. For example, avoid excessive or intense exercise.

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 breakdown of skeletal muscle, a condition called rhabdomyolysis. This is associated with burgundy-colored urine and a risk for kidney failure

When to Contact a Medical Professional

Contact your health care provider if you have repeated episodes of sore or cramped muscle after exercise, especially if accompanied by burgundy or pink urine.

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