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.

Read more ...

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.

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

What causes metabolic diseases of muscle?

How are metabolic diseases of muscle diagnosed?

Because these diseases are rare, many people with metabolic disorders of muscle have to spend some time figuring out what is causing their muscle weakness, myoglobinuria or other symptoms. But it's important to get an accurate diagnosis of a specific metabolic myopathy so the affected person can modify diet and exercise, and monitor potentially serious disease effects.

This section covers the following signs and symptoms of metabolic diseases of muscle:

This section provides information about 10 metabolic diseases of muscle. Each one gets its name from the substance that’s lacking.

For more information about these types, please click on the individual disease name.