CMT Blog

CMT Blog

Living and Learning with Charcot Marie Tooth Disease.

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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.

    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
  • Play the didgeridoo (or harmonica) to fight sleep apnea

    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.

    Dan

    February 10, 2020
    News, Research, Therapy
    Breathing, CPAP, Respiration, Sleep Apnea, Tongue
  • Reading (and Writing) about Disability

    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.

    Dan

    February 9, 2020
    Art
    Disability, Literature
  • 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.

    Dan

    February 9, 2020
    Research, Therapy
    Breathing, CMT2, Hypercapnia, Respiration, Sleep Apnea
  • 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 sleep apnea. It’s definitely accurate relative to my own experience in the past year or so.

    Dan

    January 4, 2020
    Research, Therapy
    Asthma, BiPAP, Blood Oxygen, CMT1, CMT1A, CMT2, CMT2C, CPAP, Depression, Hypercapnia, Hypercarbia, Hypoxemia, Larynx, Pharynx, Quality of Life, Sleep Apnea, Vocal Cords
  • 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 will cover nearly all CMT Type 1s and 2s, including types with as yet unidentified genetic causes.

    Dan

    December 31, 2019
    Research
    Antisense Oligonucleotides, Axon, CMT1, CMT1A, CMT1B, CMT1X, CMT2, CMT2A, CMT2E, CMT4, CMT4C, CMTX, CRISPR, Inherited Neuropathies Consortium, Ionis Pharmaceuticals, Kleopas Kleopa, Mitofusin 2, Muscular Dystrophy, Myelin, Neuromuscular Disorders, PMP22, Schwann Cells, Spinal Muscular Atrophy, STAR, Stephan Züchner
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