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Never Get Sick!
Here’s my list of immune boosters and ear-nose-throat (ENT) soothers and cleansers — good in every flu and cold season for prevention and healing.
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CMT’s Impact on Quality of Life Can Be Slight
Even though the measurable electrophysiological impact of CMT1A is high, the subjective level of experienced disability is pretty low, given the ways you can learn to compensate.
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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)” in them — a likely cause for their CMT that was also backed up by experiments in mice. The CMT News site covers this in…
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Late Diagnoses
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…
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Dining in the Dark
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.
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ACE-083 Trials Show No Benefit
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.
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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.
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Book Review: Shades of Loneliness
Shades of Loneliness offers some insight into why we medicalize people and disorders we can’t integrate into society by normal means.
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Video short on CMT – Rare Film Festival
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.
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Do I Have Sleep Apnea?
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.
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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…
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Second Phase 3 Clinical Trial for CMT1A “Pleodrug”
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.
CMT Blog
Living and Learning with Charcot Marie Tooth Disease.