McArdle's Disease

 

Welcome to PT 635 Pathophysiology of Complex Patient Problems This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!

Original Editors - Ed Foring from Bellarmine University's Pathophysiology of Complex Patient Problems project.

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Definition/Description
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In 1951 Dr. Brain McArdle of Guy's Hospital in London England first described this disease. This disease also is refered to as myophosphorylase deficiency or Type V glycogen storage disease. This disease is a metabolic disease where skeletal muscle cells can not breakdown glycogen into glucose.

Prevalence[edit | edit source]

McArdle's disease is rare affecting approximately 1 in 100,000 people. This disease remains undiagnosis until most reach adulthood therefore the prevalence of this disease may be higher.

Characteristics/Clinical Presentation[edit | edit source]

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Associated Co-morbidities[edit | edit source]

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Medications[edit | edit source]

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Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]

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Etiology/Causes[edit | edit source]

The cause of this disease is due to a missing or non-functioning enzyme that breaks down glycogen into glucose during exercise called myophosphorylase C. 

Systemic Involvement[edit | edit source]

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Medical Management (current best evidence)[edit | edit source]

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Physical Therapy Management (current best evidence)[edit | edit source]

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Alternative/Holistic Management (current best evidence)[edit | edit source]

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Differential Diagnosis[edit | edit source]

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Case Reports/ Case Studies[edit | edit source]

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Resources
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Recent Related Research (from Pubmed)[edit | edit source]

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References[edit | edit source]

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