Mutations in the GJB1 gene affecting transmembrane, or cell membrane-spanning, regions of the connexin-32 protein are associated with more severe disease in people with X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). That’s according to a study in France, which also demonstrated that patients with mutations affecting other protein regions usually…
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Too many people living with Charcot-Marie-Tooth disease (CMT) feel alone in their struggle. Too many are under the impression that they must individually shoulder the burden of managing their symptoms while navigating an environment that isn’t constructed with disabled bodies in mind. No one should have to overcome…
Becoming educated and informed about Charcot-Marie-Tooth disease is a good first step. Here you’ll find general information about the disease, including diagnosis, symptoms, and causes.
It helps to know others have been where you are now. Here’s a collection of our columnists’ words of wisdom to help you along on your CMT journey.
There is no cure for CMT yet, but here you can find more information about current therapeutic approaches, as well as experimental treatments that are in the pipeline.
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