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McArdle syndrome: Muscle problems after exercise

  1. McArdle syndrome is a rare autosomal disorder in which glycogen breakdown is impossible in the patient. Glycogen is a converted form of glucose and therefore an important energy source in all tissues, but especially in the muscles and liver. Due to glycogen storage disease, the patient has muscle-related symptoms in combination with fatigue and burgundy-colored urine. The disease is difficult to recognize. Supportive and symptomatic treatment is available in which patients with this syndrome have an excellent prognosis. The English biochemist B. McArdle first described this syndrome in 1951.

Causes and heredity McArdle syndrome

  1. Gene mutation A mutation (alteration) of the PYGM gene causes McArdle syndrome. Due to the lack of the enzyme phosphorylase, the body is unable to break down glycogen in the muscles. This causes stiffness, muscle cramps, muscle pain

Symptoms: Muscle problems after exercise, burgundy colored urine and fatigue

  1. The symptoms appear in early childhood and mainly present after exercise such as sports. In one third of the patients, the symptoms worsen at a later age due to weight gain and a worse condition. The muscle problems and other symptoms are very different per patient but also per moment. The patient has burgundy-colored urine, which is known in medical terms as "myoglobinuria". He is (very) tired and has muscle related problems: muscle cramps, muscle pain, muscle stiffness and muscle weakness

Diagnosis and investigations

  1. Physical examination

Treatment of disease

  1. No specific treatment is available for this syndrome. Therefore, the doctor treats these symptoms supportively and symptomatically. The patient tries to improve exercise intolerance and perform more physical activities, but avoids overload. He would benefit from a physiotherapist for these light exercises. In addition, he pays attention to the diet and takes in sufficient glucose in the form of candy, for example. He always has this on hand because it replaces energy when needed. Furthermore, a protein-rich diet is recommended to increase muscle endurance. Finally, the doctor avoids general anesthesia

Glycogen Storage Disease Complications

  1. Exercise may cause muscle pain, or even breakdown of skeletal muscle (rhabdomyolysis). Contractures also occur in the patient. This condition is accompanied by burgundy urine, which puts the patient at risk of renal failure

Muscle diseases Netherlands

  1. Muscle Diseases The Netherlands has placed a free downloadable brochure about the syndrome on its website. Here the reader will also find information about specialized care providers and contact with fellow sufferers.



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