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Genetics of Glycogen-Storage Disease Type V Follow-up

  • Author: Edward J Cupler, MD, FAAN; Chief Editor: Maria Descartes, MD  more...
Updated: Nov 10, 2015

Further Inpatient Care

If acute renal failure occurs in patients with McArdle disease (glycogen-storage disease type V), hemodialysis and appropriate monitoring of fluid and electrolyte status may be necessary.



Because acute renal failure is precipitated by rhabdomyolysis in McArdle disease, avoidance of strenuous and/or isometric exercise may be indicated.



Acute renal failure may complicate muscle necrosis and myoglobinuria following vigorous exercise.



McArdle disease typically has a relatively benign nature when severe rhabdomyolysis is avoided. Limitation or adaptation of exercise to avoid symptoms may be necessary. Acute renal failure requires appropriate treatment. Progression to chronic renal disease has not been described, but acute renal failure due to myoglobinuria is potentially life threatening.


Patient Education

Educate patients about modifying their activity in order to prevent rhabdomyolysis. Patients should avoid extreme isometric exercise.

Educate patients about the “second wind” phenomenon.

Contributor Information and Disclosures

Edward J Cupler, MD, FAAN Head of Neurophysiology Section, Director of Neurology Residency Training Program, Consultant in Neurology, Neuromuscular Disorders, and Sports Neurology, King Faisal Specialist Hospital and Research Center, Saudi Arabia

Edward J Cupler, MD, FAAN is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, World Muscle Society

Disclosure: Received honoraria from Genzyme for speaking and teaching; Received honoraria from Pfizer for speaking and teaching.


Cydney L Fenton, MD Director, Center for Diabetes and Endocrinology, Akron Children's Hospital

Cydney L Fenton, MD is a member of the following medical societies: American Academy of Pediatrics, American Diabetes Association, Endocrine Society, Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Edward Kaye, MD Vice President of Clinical Research, Genzyme Corporation

Edward Kaye, MD is a member of the following medical societies: American Academy of Neurology, Society for Inherited Metabolic Disorders, American Society of Gene and Cell Therapy, American Society of Human Genetics, Child Neurology Society

Disclosure: Received salary from Genzyme Corporation for management position.

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Enzyme histochemistry of 19-year-old male with McArdle disease.
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