CMT2 – CMT Blog

The Problem with Writing about CMT

January 1, 2021January 1, 2021 Dan KnaussLeave a comment

I've been increasingly irritated lately by US-based CMT-related non-profit organizations that seem to compete with each other for donations — supposedly they drive research for "treatments and cures." How well they actually do this relative to the padding of their own budgets is a good question I might take up down the line, but you would think they might at least put some effort into writing plain-English summaries of technical material (medical and scientific research) in ways that educate and inform regular people. But no.

New discovery of a genetic cause (and likely cure) for a previously unknown subtype of CMT2

June 9, 2020June 8, 2020 Dan1 Comment

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.

New Study of Genetic Causes of CMT Needs Participants

June 9, 2020June 8, 2020 DanLeave a comment

The Rare Diseases Network is looking for participants in a new study looking for unknown causes of the most common types of CMT.

Genetic Cause of CMT2 Discovered?

March 22, 2020March 24, 2020 DanLeave a comment

A recent study published in the Journal of Clinical Investigation looked at two unrelated families with CMT2 and identified "autosomal dominant mutations of the canonical Notch ligand Jagged1 (or JAG1)" in them — a likely cause for their CMT that was also backed up by experiments in mice. The CMT News site covers this in… Continue reading Genetic Cause of CMT2 Discovered?

CMT and Respiratory Dysfunction

March 11, 2020April 6, 2020 Dan2 Comments

Science is starting to confirm very wide ranging effects to the nerve damage CMT does, often slowly and over time so it may not be very noticeable for many years.

New genetic diagnostics for CMT

February 21, 2020February 24, 2020 DanLeave a comment

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… Continue reading New genetic diagnostics for CMT

Respiratory Problems and CMT

February 9, 2020February 24, 2020 DanLeave a comment

Earlier in life, relatively healthy people with CMT can overlook signs of compromised respiratory function which will start to cause more and more problems for them later.

Sleep Apnea and CMT

January 4, 2020February 24, 2020 Dan3 Comments

Studies show CMT tends to come with Disturbed Sleep, Depression, and Reduced Quality of Life. 😞 This post summarizes the scientific research I've absorbed on the subject of CMT and sleep apnea. It's definitely accurate relative to my own experience in the past year or so.

The State of Research for Cures (2019)

December 31, 2019March 4, 2020 Dan1 Comment

The US-based CMTA (Charcot Marie Tooth Association) has a 12-year-old program called the Strategy to Accelerate Research (STAR) that is actively pursuing the causes and possible cures for CMT. STAR will cover nearly all CMT Type 1s and 2s, including types with as yet unidentified genetic causes.