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?
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 obviously atrophied.
Blind dining means you enter a restaurant that is completely pitch dark from beginning to end, and you are served by a waitstaff who are literally blind.
Acceleron Pharma Inc's ACE-083 drug trials "did not achieve statistically significant improvements in functional endpoints relative to placebo" with CMT patients, so it will no longer be developed.
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.
Shades of Loneliness offers some insight into why we medicalize people and disorders we can't integrate into society by normal means.
This is a great, short video that explains the basics of CMT — made by students at the University of Greenwich for the first "Rare Film Festival," put on by Rare Disease UK.
Previously I mentioned and linked to several of the self-tests that can be done to check the likelihood of having sleep apnea. One of these self-evaluation tests is called STOP-BANG, and you can get it at the Harvard Medical School website.
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.
Over at Electric Literature, Robert Kingett recently reviewed a bunch of literary anthologies written by, for, and about disabled people. These are essays and fictional works from the young adult genre to dystopian science fiction.