Dync1h1 mutation

[Gylnx]

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

 

[KimT]

I've met others who have had respiratory onset with no other clinical weakness. The EMG found widespread denervation. They will still do a clinical exam and maybe other tests to rule out ALS.
Your history is complicated. I'm glad you were referred to neuromuscular specialist. When is your appointment? Did they give you a BiPap?

 

[Gylnx]

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.

 

[Gylnx]

My respiratory therapist ordered it for me. It’s Rx only

Astral single limb circuit smooth bore 15 mm ResMed 21312​

 

[Gylnx]

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

 

[Gylnx]

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.