CMT Blog

CMT Blog

Living and Learning with Charcot Marie Tooth Disease.

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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.

    Dan

    April 15, 2020
    Awareness
    Illness, Physical Health, Respiratory Health
  • 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.

    Dan

    April 15, 2020
    Research
    CMT1A, Depression, Fatigue, Quality of Life
  • 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…

    Dan

    March 22, 2020
    Research
    CMT1, CMT2, GJB1, JAG1, MFN2, MPZ, PMP22, SEPT9
  • 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…

    Dan

    March 16, 2020
    Awareness, People
    CMTA, Diagnosis, Disability, HNF
  • 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.

    Dan

    March 13, 2020
    Awareness
    Accessibility, Blindness, Disability, Mental Health, Self-Blame
  • 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.

    Dan

    March 12, 2020
    News, Research
    Acceleron, ACE-083
  • 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.

    Dan

    March 11, 2020
    Research, Therapy
    Breathing, CMT and Respiratory Impairment, CMT1A, CMT2, CMTNS, Hypercapnia, Hypercarbia, Lungs, MEP, MIP, Respiration
  • 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.

    Dan

    March 6, 2020
    Uncategorized
    Anxiety, Depression, Loneliness, Mental Health, Psychology, Quality of Life, Sociology
  • 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.

    Dan

    March 2, 2020
    News
    Rare Disease UK
  • 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.

    Dan

    February 24, 2020
    Therapy
    Sleep Apnea
  • 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…

    Dan

    February 21, 2020
    News, Research
    CMT1, CMT2, HNF, Nerve Conduction Velocity, Whole Exome Screening
  • 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.

    Dan

    February 17, 2020
    News, Research
    Acceleron, ACE-083, Baclofen, clinical trials, CMT1A, D-sorbitol, Daniel Cohen, naltrexone hydrochloride, ONLS, Pharnext, pleodrug, pleotherapy, PMP22, PXT3003, Rodolphe Hajj
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