McArdle Disease medical overview
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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