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Glycogen storage disease type 5
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Glycogen storage disease type 5

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Contributors: Marilyn Augustine MD
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Synopsis

Glycogen storage disease type 5 (McArdle disease) is an autosomal recessive disease affecting muscle function. A mutation on the muscle glycogen phosphorylase gene, PYGM, creates a myophosphorylase deficiency so that muscle glycogen cannot be adequately broken down. Patients typically present with fatigue, myalgia, muscle cramps or weakness, poor endurance, myoglobinuria, and elevated levels of creatinine kinase. Diagnosis typically occurs by early adulthood but may first present in older adults with progressively worsening weakness. Some patients will experience complications such as rhabdomyolysis or acute renal failure.

For more information, see OMIM.

Codes

ICD10CM:
E74.00 – Glycogen storage disease, unspecified

SNOMEDCT:
55912009 – Glycogen storage disease, type V

Differential Diagnosis & Pitfalls

Best Tests

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References

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Last Updated: 03/29/2017
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Glycogen storage disease type 5
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Glycogen storage disease type 5 : Fatigue, Muscle weakness, Myoglobinuria, Muscle cramp, Creatine kinase elevated, Myalgia
Copyright © 2019 VisualDx®. All rights reserved.