Monday, June 04, 2012

McArdle syndrome (glycogen storage disease type V)

Table of Contents

Alternative Names

Glycogen storage disease type V (GSDV); Myophosphorylase deficiency; Muscle glycogen phosphorylase deficiency; PYGM deficiency


Treatment

There is no specific treatment, but you can manage the symptoms by improving exercise tolerance and controlling physical activity. Avoid excessive or intense exercise.

Dietary management should include having a supply of glucose (candy, for example) on hand if you need to replace energy.

Avoid general anesthesia.


Support Groups

For additional information and resources, visit the Association for Glycogen Storage Disease at www.agsdus.org.


Expectations (prognosis)

People with McArdle syndrome can live a normal life by managing their physical activity.


Complications

Exercise may produce muscle pain, or even a breakdown of skeletal muscle (rhabdomyolysis). This condition is associated with burgundy-colored urine and a risk for kidney failure, if it is severe.


Calling your health care provider

Contact your health care provider if you have repeated episodes of sore or cramped muscles after exercise, especially if you also have burgundy or pink urine.

Consider genetic counseling if you have a family history of McArdle disease.



Review Date: 03/29/2011
Reviewed By: A.D.A.M. Editorial Team: David Zieve, MD, MHA, and David R. Eltz. Previously reviewed by Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network (1/21/2010).

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)