Metabolic Diseases of Muscle

MDA Awards $13.7 Million in Research Grants

The Muscular Dystrophy Association has awarded 40 research grants totaling $13.7 million to advance the understanding of disease processes and uncover new strategies for treatments and cures of muscular dystrophy and the more than 40 other diseases in the Association's program.

The new grants were recommended by MDA's Scientific and Medical Advisory Committees and approved by MDA's Board of Directors at its July 2011 meeting.

Winter Wonderland


Keith has been painting since high school.  He works in different mediums and also enjoys woodworking.  Keith is employed by the Oklahoma Department of Transportation.

Keith Stout


Edmond, OK

Keith has been painting since high school. He works in different media and also enjoys woodworking. Keith is employed by the Oklahoma Department of Transportation.

Full name: 
Keith Stout
Keith Stout
Metabolic Diseases of Muscle

Living With

Dear Friends:

If you’ve just learned that you or a loved one has a metabolic muscle disorder, you’re probably both relieved and concerned. That’s how I felt when I learned at age 27 that I have phosphorylase deficiency, or McArdle disease.

Keith Stout

Read more ...

Clinical Trials

About clinical trials

A clinical trial is a test in humans of an experimental medication or therapy. Clinical trials are experiments, not treatments, and participation requires careful consideration.

Although it's possible to benefit from participating in a clinical trial, it's also possible that no benefit — or even harm — may occur. Keep your MDA clinic doctor informed about any clinical trial participation. (Note that MDA has no ability to influence who is chosen to participate in a clinical trial.)


MDA-funded scientists are pursuing a number of promising leads in their quest to understand the causes of the metabolic diseases of muscle.

To date, scientists have isolated all of the genes involved in the metabolic myopathies described here, and their genetic codes have been unraveled, offering insight into how particular gene defects lead to disease. In addition, isolation of genes has allowed researchers to begin experiments with gene therapy, a potential cure for some metabolic diseases.

Medical Management

This section addresses the following aspects of medical management of metabolic diseases of muscle:

Avoiding rhabdomyolysis and myoglobinuria
Cardiac care
Dietary changes
Emergencies and anesthesia


What causes metabolic diseases of muscle?

Muscle cell in a metabolic disorder