Facts About Myopathies
Muscular Dystrophy Association

Introduction Questions and Answers Part I Part II Does it Run in the Family? MDA's Search for Treatments and Cures MDA is Here to Help You

MDA'S SEARCH FOR TREATMENTS AND CURES

With MDA's support, scientists have made significant progress toward understanding and treating the inheritable myopathies.

Until recently, people with myopathies that cause temporary symptoms were sometimes accused of "faking it," but MDA-funded scientists helped prove that these people have treatable medical conditions.

Also, infants with nemaline or myotubular myopathy were once typically expected to die within weeks or months of birth, but MDA-backed researchers helped show that these infants can live substantially longer with aggressive medical intervention.

MDA scientists have also contributed to the rapid identification of genetic defects that cause inheritable myopathies.

In the early 1990s, researchers discovered that ion channel defects were at the root of several myopathies. In the mid-1990s, they found that defective filament proteins give rise to nemaline myopathy. They've established that X-linked myotubular myopathy is caused by defects in a previously unknown protein called myotubularin.

These discoveries have enabled the design of genetic tests that facilitate accurate diagnosis and prognosis, and they're paving the way for treatments that attack the myopathies at their source.

The discovery of ion channel defects underlying myotonia congenita, paramyotonia congenita and the periodic paralyses has led to the development and use of drugs that bind to ion channels and modify their activities to restore normal muscle function.

In the future, drug treatments might become available for central core disease and nemaline and myotubular myopathies. To this end, scientists are rapidly deciphering the functions of myotubularin.

MDA research grantees are also working on several different strategies to replace or repair defective genes, and these gene therapy techniques hold great promise for treating the inheritable myopathies.

Along the same lines, MDA-funded scientists are investigating the possible therapeutic uses of stem cells — primitive cells that generate all of the cells in the body. Scientists hope to use stem cells to produce healthy muscle cells that could replace myopathic muscle cells.

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