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  1. G

    Dync1h1 mutation

    Yes bipap was given but due to almost no respiratory muscle strength was prescribed vent with active circuit. Thanks for info on the EMG finding. I foolishly only did ncv 6 years ago thinking it was EMG.
  2. G

    Dync1h1 mutation

    Hey.. these mutations are new. NIH is going to submit for undiagnosed case as it’s autosomal dominant motor neuron disease
  3. G

    Dync1h1 mutation

    My respiratory therapist ordered it for me. It’s Rx only Astral single limb circuit smooth bore 15 mm ResMed 21312
  4. G

    Dync1h1 mutation

    Hi, my trilogy was recalled and got astral 150 (I have high out of pocket insurance). How much is the circuit and how often do I have to replace it? Also where can I buy it? I see a respiratory therapist who can perform maintenance but he doesn’t know where to buy it.
  5. G

    Dync1h1 mutation

    Met with Pulmonologist /thoracic surgeon on diaphragm weakness. They referred me to ALS clinic as the MIP value is very low. Not sure what type of EMG can diagnose this as I have no peripheral muscle issues except respiratory muscle
  6. G

    Dync1h1 mutation

    Based on the genetic testing and drop in FVC in supine position, I was diagnosed with diaphragm weakness due to hereditary motor neuron disease (likely SMA-4) . The Dr. ordered non invasive ventilator to be used at night but assured that this will not decline fast and pulmonary symptoms will...
  7. G

    Dync1h1 mutation

    It turned out invitae uses an older genome model hg37 and nebula uses hg38, leading to discrepancies. I have requested the variant list for appointment with neurology as the MIP 40 and MEP 80 cutoff points do indicate neuromuscular weakness according to the new pulmonologist at MDA clinic. The...
  8. G

    Dync1h1 mutation

    The new Pulmonary rehab specialist is also a neurologist and he is prescribing NVS as cpap or bipap is not suitable for respiratory muscle weakness. I am glad that I looked for a second opinion as the breathlessness was becoming difficult to recover from every morning.
  9. G

    Dync1h1 mutation

    Just for update, local ALS clinic was able to help with this and ordered supine spirometry since MIP is very low and may indicate diaphragm weakness due to another type of neuromuscular issue.
  10. G

    Dync1h1 mutation

    Thanks for this information. I set up a new appt with pulmonologist.
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