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Diseases » McArdle disease » Summary

What is McArdle disease?

What is McArdle disease?

  • McArdle disease: A rare inherited glycogen storage disorder involving a deficiency of muscle phosphorylase needted to convert glycogen to glucose in the muscles.
  • McArdle disease: Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise.
    Source - Diseases Database

McArdle disease is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that McArdle disease, or a subtype of McArdle disease, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list McArdle disease as a "rare disease".
Source - Orphanet

McArdle disease: Introduction

Types of McArdle disease:

Broader types of McArdle disease:

How serious is McArdle disease?

Complications of McArdle disease: see complications of McArdle disease

What causes McArdle disease?

Causes of McArdle disease: see causes of McArdle disease

What are the symptoms of McArdle disease?

Symptoms of McArdle disease: see symptoms of McArdle disease

Complications of McArdle disease: see complications of McArdle disease

Onset of McArdle disease: usually after 10 years of age

Can anyone else get McArdle disease?

More information: see contagiousness of McArdle disease
Inheritance: see inheritance of McArdle disease

McArdle disease: Testing

Misdiagnosis: see misdiagnosis and McArdle disease.

How is it treated?

Doctors and Medical Specialists for McArdle disease: Medical Geneticist ; see also doctors and medical specialists for McArdle disease.
Treatments for McArdle disease: see treatments for McArdle disease
Research for McArdle disease: see research for McArdle disease

Name and Aliases of McArdle disease

Main name of condition: McArdle disease

Other names or spellings for McArdle disease:

glycogenosis type 5, glycogen storage disease type V, muscle phosphorylase deficiency, myophosphorylase deficiency, Myopathy, McArdle type, Glycogen storage disease type 5

Muscle phosphorylase deficiency, Myophosphorylase deficiency, Glycogenosis type 5, Glycogen storage disease type 5 Source - Diseases Database

Glycogen storage disease V, Muscle glycogen phosphorylase deficiency, Myophosphorylase deficiency, PYGM deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

McArdle disease: Related Conditions

Research the causes of these diseases that are similar to, or related to, McArdle disease:


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