Charcot-Marie-Tooth Disease (CMT)

Research Briefs: FA, MG, MM, MMD1, gene therapy

Edison drugs target FA, mitochondrial diseases

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

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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.

Signs and Symptoms

Partly because there are different types of Charcot-Marie-Tooth disease (CMT), the exact symptoms vary greatly from person to person. This section presents a general picture of CMT signs and symptoms.

This section covers:

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