The “First Treatable CMT Disease” is Neither CMT Nor a Disease
CMT-related research may truly do away with CMT disease first by eliminating or updating how naming and classification works in neurological pathology.
A new discovery of a genetic cause (and likely cure) for a previously unknown subtype of CMT2
Published in Nature Genetics last month, the INC group’s findings are a big deal, and there is a really cool story from the University of Miami’s Miller School of Medicine about how the research team came together.
CMT in Canada
There are not a lot of Canadian groups and resources organized for people with CMT. How can we build this community?
CMT, COVID-19, and Respiratory Health
A few weekends ago, I listened to the HNF webinar on COVID-19 and CMT with Dr. John Bach of Rutgers University Medical School, a leader in the field of pulmonary rehabilitation, particularly for people with neuromuscular diseases. You can watch it and get a bunch of other materials now — for free — thanks to…
In the past the norm was we didn’t get a diagnosis, so family and friends just shrugged it off and called us “clumsy” or pretended nothing was wrong. I hope this is an outlier experience, but I was pushed into sports, like track and cross country, in high school when my feet and ankles became…
New Genetic Diagnostics for CMT
Here’s an informative article from the Hereditary Neuropathy Foundation (HNF) about current best practices in genetic diagnosis of CMT. A lot of examples are given of people with less common subtypes who waited a long time to get properly diagnosed — sometimes after many years of wrong diagnoses or none at all. Today the best…