MDA For Strength Independence & Life

Hope Through Research

At MDA, we take a big picture perspective across the full spectrum of neuromuscular diseases to uncover scientific and medical breakthroughs that accelerate treatments and cures. The power in our research approach is that we can often apply learnings from one disease to progress in others to bring urgently-needed answers to our families.

Congenital Myasthenic Syndromes

In the past, people with congenital myasthenic syndromes (CMS) often were told they had myasthenia gravis (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.

MDA-supported scientists are continuing to probe the genetic and molecular underpinnings of the various congenital myasthenic syndromes so that specific treatments for these can be developed or refined.

Current projects include the development of a new mouse model of a congenital myasthenic syndrome; genetic analysis of a worm with a slow-channel myasthenic syndrome; studies of how the nerve-muscle junction forms; and overall methods to improve the diagnosis, treatment and prevention of congenital myasthenic syndromes.

Funded Projects

 

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