Summaries and explanations of new research aimed at identifying the causes of and cures for Charcot Marie Tooth disease (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… Continue reading New genetic diagnostics for CMT
After the setback of having to do a second Phase 3 clinical trial, Pharnext's ongoing drug trials for PXT3003 show positive results in people with CMT1A.
Some recent studies on obstructive sleep apnea got attention for concluding something fairly obvious — losing weight and reducing fat in the tongue might be the best treatment for OSA.
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.
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 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.
