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McArdle Disease medical overview

Please note that this translation is automated and may not be perfect.

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OVERVIEW

One page overview


This booklet provides referenced information to assist GPs and other medical professionals. McArdle disease should be managed by a specialist service, but this booklet can help with issues arising through primary care.


  • McArdle disease is a very rare autosomal recessive disorder of muscle metabolism.

  • Clinical Practice Guidelines for McArdle’s are published with open access (page 5).

  • Specialist services are essential to achieve correct diagnosis and ensure good management.

  • Genetic confirmation is necessary to avoid potentially damaging misdiagnosis.

  • There is an inability to utilize muscle glycogen.

  • Maximal isometric activity must be ceased by about 6 seconds to avoid risk of muscle contracture.

  • An energy crisis occurs in all activity, severe in the first 10 minutes and throughout intense activity.

  • This causes premature fatigue, exaggerated heart rate, pain, muscle spasm and can lead to fixed contracture.

  • Diagnosis is often delayed about 20 years, during which time muscle damage or atrophy may occur.

  • Patients diagnosed in childhood may learn to manage their condition and be less severely affected – although always at risk of contracture.

  • Regular exercise is essential to enhance aerobic metabolism and reduce the risk of muscle damage.

  • Patients need to be able to recognize the signs that urgent hospital attendance is required.

  • Patients are at risk of some concomitant conditions, but not all issues are related.

  • Sharing with other patients through support groups can help considerably.

McArdle Disease Medical Overview

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