CMT Science Today

MDA-supported research in Charcot-Marie-Tooth disease is focused on figuring out what goes wrong at the molecular level in CMT-affected axons or the myelin sheaths that surround them, rather than on attempting to fix the problem directly or preserving nerve function in spite of it. A central theme emerging from the last decade of research is that myelin and axons require constant signals from each other to stay functional.

Providing a Network for Clinical Research in CMT

The field of Charcot-Marie-Tooth disease (CMT) research is expanding, and people with the disease can help move it forward.

Discovery of the complicated genetics underlying CMT has made it clear that more studies are needed to correlate the progression, symptoms and outward manifestations of the disease with its specific genetic type.

Sorting Out CMT

As recently as the early 1990s, many experts hoped that understanding just a few genes that influenced the development or maintenance of myelin or axons would explain all of Charcot-Marie-Tooth disease.

It didn’t turn out to be that simple, however. Today, there are dozens of genes recognized that, when flawed, can cause CMT.

MDA Mailbag Summer 2011

Letters to Quest: Choosing to have a child * Diagnosis explains past symptoms * CMT exercise warm-up tip * Mike Murphy articles inspire

Living With

Dear Friends:

I've lived with CMT since my early 20s — more than half my life. The disease has progressed slowly over the years, mostly affecting my lower legs and hands, so that now I use a manual wheelchair part time.

George-Donahue

Read more ...

Clinical Trials

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.)

Research

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.

Medical Management

Although there’s no cure for CMT, there are treatments that can be used to effectively manage its symptoms. These treatments have allowed many people with the disease to lead active, productive lives.

This section addresses the following:

Breathing difficulties
Drug warning
Hand weakness

Causes/Inheritance

Causes of Charcot-Marie-Tooth disease (CMT)

peripheral nerve fibers

Peripheral nerves control movement by relaying impulses from the spinal cord (not shown) to the muscles (shown in the forearm). They also convey sensation and help with balance and awareness of the body’s position.

Diagnosis

A combination of lower leg weakness and foot deformities is a red flag for Charcot-Marie-Tooth disease (CMT) but isn’t sufficient for diagnosis. When a patient has those symptoms, a neurologist will usually start with a physical exam to look for further signs of distal weakness and sensory loss.

As a test for leg weakness, a neurologist might ask patients to walk on their heels or move part of their leg against an opposing force.

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