McArdle Syndrome: Causes, Symptoms, Diagnosis, Treatment, Complications

What Is Mcardle Syndrome?

McArdle Syndrome is a pathological condition in which the body is unable to break down glycogen, which is a vital source of energy in the body and is present in all the tissues of the body. Majority of individuals with McArdle Syndrome are usually diagnosed in the later stages of life usually by the time they are 40-50 years of age, although they may have the disease at birth. The symptoms of McArdle Syndrome are usually variable, but may include exercise intolerance, severe fatigue, painful muscle cramping, which may be triggered by activities like lifting or running.

What Are The Causes Of Mcardle Syndrome?

The root cause of McArdle Syndrome is a malfunctioning gene which produces an enzyme called glycogen phosphorylase. Due to this malfunction, the body is unable to break down glycogen present in the muscles resulting in variety of symptoms. McArdle Syndrome is an autosomal recessive trait meaning that the defective gene needs to be inherited from both parents. Family history of this disease increases the risk for developing McArdle Syndrome.

What Are The Symptoms Of McArdle Syndrome?

Symptoms Of Mcardle Syndrome

Symptoms Of McArdle Syndrome Include:

  • Myoglobinuria
  • Severe fatigue
  • Exercise intolerance
  • Muscle cramping
  • Severe pain in the muscles 
  • Stiffness of the muscles
  • Muscle weakness.

How Is McArdle Syndrome Diagnosed?

For a confirmatory diagnosis of McArdle Syndrome the following tests are done:

  • EMG and nerve conduction studies
  • Genetic testing to look for the defective gene
  • Testing lactic acid levels
  • MRI scan
  • Muscle biopsy
  • Urinalysis to look for presence of myoglobin
  • Serum creatine kinase levels.

What Are Treatments For McArdle Syndrome?

As of now, there is no cure for McArdle Syndrome. Treatment is aimed at controlling the symptoms. This can be done through activity modification and avoiding activities which may trigger the symptoms.

Glucose should be given importance when formulating a diet plan for an affected individual for energy production. Muscle endurance may be increased by intake of high protein diet.

An individual with McArdle Syndrome can lead a normal life if he or she controls the activities and avoids triggers which may aggravate the symptoms.

Complications Of McArdle Syndrome

Some Of The Complications Of McArdle Syndrome Are:

  • Severe muscle pain
  • Rhabdomyolysis
  • Renal failure in severe cases.

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