Questions regarding respiratory onset

Paigeyorr

New member
Joined
Sep 28, 2022
Messages
3
Reason
Learn about ALS
Diagnosis
00/0000
Country
US
State
NC
City
Spring Lake
Hello everyone, thank you all so much for your patience and kindness when it comes to those of us asking questions regarding questionable symptoms.

To start I am a 25 year old female (I have read stickies and understand that ALS in my age group is already extremely rare, with respiratory onset being the rarest type)

That said, exactly 1 month ago I began having full body muscle fasciculations that came on full force out of nowhere (I understand that twitching as a symptom can mean absolutely nothing) and a week after that I developed shortness of breath that is constant and has persisted since onset. No matter if I’m sitting down doing nothing or up and moving around I am experiencing a feeling of air hunger and in order to get a full deep breath in I have to really dig deep and use accessory muscles to get a full deep satisfying breath (when I do this you can very visibly see my neck muscles pulling). Shortness of breath is worse when laying down as well so I have been propping myself up to sleep. I am also experiencing perceived neck weakness. I was able to get into a neurologist for an EMG test in which they tested 2 muscles on my right arm, 2 on right leg, 4 right paraspinal muscles, and my right SCM muscle. Results of the EMG were normal for all muscles tested.

My question is, is the normal EMG of these muscles sufficient to rule out respiratory onset? Or would only an EMG of the diaphragm be enough to rule that out if this is still early on?

I have a pulmonologist apt scheduled but they didn’t have an opening until February 2023 at Duke where I receive my neuro care so I’m trying to get my referral switched to somewhere else in order to get an earlier apt.

Thank you so much.
 

Attachments

  • 36015819-C50F-4DD1-AF6F-320783266FCA.png
    36015819-C50F-4DD1-AF6F-320783266FCA.png
    327.9 KB · Views: 43

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
14,880
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
Emgs of the diaphragm are not routinely done. Several years ago when diaphragmatic pacemakers were being tried ( they failed to help) emgs were done to see if there was enough of an impulse fr it to work. I know at least one major ALS center had a cheat sheet in the emg room because it was so unusual that even their experienced electrophysiologists needed reminding how. The test that would help to rule it out is a pulmonary function test which your gp or neuro could order
 

Paigeyorr

New member
Joined
Sep 28, 2022
Messages
3
Reason
Learn about ALS
Diagnosis
00/0000
Country
US
State
NC
City
Spring Lake
Thank you so much for your reply!

I have a standing pulmonologist appointment for a PFT scheduled for February but I’m going to try and see if I can get into somewhere else sooner. Do you think the EMG I had done was enough to rule out MND with the muscles tested or should I hold my breath until I get a PFT done?
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
14,880
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
I personally think that your emg would have shown something but if you have respiratory issues you should get them diagnosed and it is up to your neurologist to say if the emg was enough. In my experience in Massachusetts I have never seen a pulmonologist administer pfts. The respiratory therapist does them and a pulmonologist reads them and interprets. Like when you have an xray the radiologist does not take the film. I also had pfts done at NIH for a study there. I always had a respiratory therapist. My point is just get someone you already see to write the order and then you will have an interpretation by a pulmonologist and can discuss with your doctor whether you need to see the pulmonologist
 

affected

Guru status reached
Joined
Apr 26, 2013
Messages
15,976
Reason
Lost a loved one
Diagnosis
05/2013
Country
OZ
State
AU
City
lala land
So sorry for what you are experiencing.
I would discuss this with my doctor if your breathing is as serious as you describe then you can try for an earlier appointment for tests somewhere else.
If your neurologist says the EMG was enough then I am not going to argue that.
Honestly, there are so many treatable things that could be happening, I would want to solve this much sooner as it is likely the earlier you start addressing the cause, the better.
 

lgelb

Moderator
Forum Supporter
Joined
Nov 5, 2009
Messages
12,770
Reason
Lost a loved one
Diagnosis
00/0000
Country
US
State
WA
City
Seattle
Nikki is right -- any doc can order PFTs. Just get those done. You could have asthma, COPD, a different lung problem, who knows. You might want to ask your PCP about a chest X-ray as well if you haven't had one, and an EKG as well.

Best,
Laurie
 

Paigeyorr

New member
Joined
Sep 28, 2022
Messages
3
Reason
Learn about ALS
Diagnosis
00/0000
Country
US
State
NC
City
Spring Lake
Hey there everyone, I appreciate all of your replies. I had a PFT today but I’m frustrated as they did not test MIP or MEP which I know would be related to diaphragm function. Would a normal PFT in everything else point away from respiratory involvement of MND or would I need to test for those values to know for sure?
 

Nikki J

Moderator
Joined
Mar 22, 2012
Messages
14,880
Reason
PALS
Diagnosis
04/2014
Country
US
State
MA
City
Boston
if your fvc was good you should be good. Clinics don’t monitor mip and mep usually they do svc ( looking at same type of thing as fvc does).
 

affected

Guru status reached
Joined
Apr 26, 2013
Messages
15,976
Reason
Lost a loved one
Diagnosis
05/2013
Country
OZ
State
AU
City
lala land
great results, that's good to hear
you can be sure that they know what tests are needed, and a normal PFT would not indicate doing the MIP and MEP
Now you can sit down with your doctor and discuss what is next, but it sure sounds like resp onset ALS is totally off the table.
 

Caw1202

New member
Joined
Dec 19, 2022
Messages
2
Reason
CALS
Diagnosis
06/2022
Country
US
State
NC
City
Greenville
My mom started having breathing issues after Covid and her first PFT showed she was at 86% and they sent her on to all the other docs over the next year (cardiologist, ENT, Neurologist...) and the breathing issues never got better. They figured she was a Covid Long Hauler but after she lost 30+ lbs in a matter of 6 months, her head started to drop and her muscles just got weaker and weaker, they began ruling out other MND. A year after that PFT at 86% my mom had another PFT and was at 39% and immediately given a non-invasive ventilator in May. She was diagnosed with Respiratory Onset ALS in June 2022 and the disease has progressed so rapidly despite moving her in with me and being her full-time caregiver. I'm just saying all of this to say, if you're breathing doesn't get better, you may have to be persistent to find out what is going on. It took us over a year of specialist, test, scans, bloodwork until finally the same pulmonologist noticed she was struggling to breath even talking and she was having fasciculations in her arms while he was talking to her. Luckily, he spotted it and knew we needed to see a better neurologist. As far as MIP and MEP, everyone is right, we are just starting to monitor this because she's on the NIV for 18 hrs/day and we just increased her tidal volume to 600 this weekend. Praying for you it's not Respiratory Onset ALS🙏
 

Bestfriends14

Very helpful member
Forum Supporter
Joined
May 7, 2017
Messages
1,739
Reason
CALS
Diagnosis
05/2017
Country
CA
State
AB
City
CALGARY
@Caw1202 Im sorry to hear about your mum. The difference in the OP's story and your mum's is that your mum had progressively worsening PFT tests. The OP's tests (all of them) have been normal with no clinical signs of any issues. That's a huge difference. Further, your mum's not 25, whereas the OP is, making that point away from ALS even more. We don't want to instill unnecessary fear into anxious posters, given all the info pointing away from ALS for them.
 
Last edited:

lgelb

Moderator
Forum Supporter
Joined
Nov 5, 2009
Messages
12,770
Reason
Lost a loved one
Diagnosis
00/0000
Country
US
State
WA
City
Seattle
Yes, the OP had normal PFTs, so not the same as Caw's mom (welcome, Caw -- let us know how we can help). Whether or not MIP and MEP are measured, you are not going to see a normal FVC in respiratory onset ALS.
 
Top