CMT Blog

CMT Blog

Living and Learning with Charcot Marie Tooth Disease.

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  • CMT and COVID-19

    The Inherited Neuropathy Consortium (INC) is asking for CMTers with a COVID diagnosis to take an anonymous questionnaire.

    Dan

    May 12, 2020
    Research
    COVID-19, genetics, Inherited Neuropathy Consortium, SARS-CoV2
  • CMT, COVID-19, and Respiratory Health

    A few weekends ago, I listened to the HNF webinar on COVID-19 and CMT with Dr. John Bach of Rutgers University Medical School, a leader in the field of pulmonary rehabilitation, particularly for people with neuromuscular diseases. You can watch it and get a bunch of other materials now — for free — thanks to the HNF.

    Dan

    April 17, 2020
    Awareness, News
    BiPAP, Breathing, CMT and Respiratory Impairment, Coronavirus, COVID-19, CPAP, frog breathing, glossal pharyngeal breathing, HNF, John Bach, Lungs, Novel Coronavirus, Pulmonary Rehabilitation, Respiration, ventilators
  • SIIT and CMT

    By far the best thing to do to build mitochondria from an exercise perspective is something called Sub-maximal Intensity Interval Training (SIIT).

    Dan

    April 16, 2020
    Awareness
    endurance, exercise, Repeat Training, SIIT
  • 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 obviously atrophied.

    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
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