Tag: CMT2
-
Differential Diagnosis with Dr. ChatGPT-4 in the House
In a matter of seconds, ChatGPT reviewed and confirmed the findings of three neurologists and a genetic counselor that took me six years to gather. It also suggested a new…
-
The “first treatable” form of CMT?
I wrote this brief article on the way the SORD gene works (or fails to work) for the Hereditary Neuropathy Foundation. SORD mutations cause “the most common autosomal recessive form…
-
All types of CMT are “Axonal”
CMT1 types have commonly been referred to as “demyelinating” and CMT2 as “axonal,” which gives the impression the nature of the nerve damage between the two is fundamentally different.
-
The Problem With Writing About CMT
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…
-
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…
-
New Study of Genetic Causes of CMT Needs Participants
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?
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)”…
-
CMT and Respiratory Dysfunction
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
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…
-
Respiratory Problems and CMT
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
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…
-
The State of Research for Cures (2019)
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…
