In 1991, the genetic causes of Charcot-Marie-Tooth disease (CMT) were completely unknown. By a decade later, MDA-funded scientists had helped identify 10 CMT-linked genes and found evidence for several others. (There are now thought to be more than 30 genes in which flaws can cause CMT.) This accomplishment has led to genetic testing for many types of CMT, which has greatly improved diagnosis.

Of equal importance, the ongoing hunt for CMT genes has given insights into treatments that might be used to stop or reverse the disorder.



  • a study of calcium handling in peripheral nerve fibers;


Clinical trials in CMT also are under way.