Terra Messmer is a practicing attorney in Tucson, Ariz. She’d had symptoms of muscle weakness since childhood and got a correct diagnosis of congenital myasthenic syndrome in 2000. Her symptoms are stabilized with medication. Introduction Questions and Answers Part I - MG Part II - LEMS,CMS MDA's Search for Treatments and Cures MDA Is Here to Help You

MDA’S SEARCH FOR TREATMENTS AND CURES

The Muscular Dystrophy Association’s commitment to research on myasthenia gravis began many years ago, when little was known about the cause of MG and its mortality rate was high.

In the early 1970s, MDA-funded researchers helped establish the autoimmune nature of MG. They showed that people with the disease have a reduced number of ACh receptors and that antibodies to the receptors can induce MG in laboratory animals.

These discoveries led swiftly to the lifesaving use of immunosuppressant drugs to treat the disease.

MDA scientists began using some of the same drugs for LEMS in the 1980s, when they helped link the disease to an autoimmune attack against the calcium channels in nerve endings.

They also began treating LEMS with the drug 3,4-DAP (which increases calcium channel activation) and continue to study calcium channels with an eye toward improved drugs.

MDA-funded researchers also developed plasmapheresis specifically for treating MG and LEMS.

Today, MDA clinics are sites for clinical trials to evaluate new immunosuppressant medications, such as mycophenylate mofetil (CellCept) and etanercept (Enbrel), as well as the role of thymectomy, in MG treatment.

MDA is also supporting the design of therapies that would target only the errant immune cells that cause autoimmune forms of myasthenia, rather than the entire immune system.

One group is working on strategies to manipulate cells that regulate the immune system, and another is studying the possible use of an antibody against a key chemical messenger of the immune system known as interleukin 6.

Yet another is investigating the possibility that genetically modified cells can act as “guided missiles” to target and destroy other cells, the ones responsible for the unwanted attack on the neuromuscular junction in MG.

In the past, people with CMS were often told they had MG and were subjected to years of pointless immunosuppressive therapy.

By identifying the genetic defects that cause CMS, MDA-funded scientists have improved the diagnosis of CMS and discovered drugs that are effective against it. They’re pursuing better drug treatments, and eyeing techniques to fix or replace the underlying genetic defects by gene therapy.

Back to Disease Booklets