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staugie

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Learn about ALS
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Us
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New Jersey
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Cedar Knolls
Hi There,

I have to start by saying how wonderful all of you and this site are. Your giving of such important personal information is really amazing and so helpful.

I am scared to go here, but could this be some sort of thoracic onset? I am a 39 year old woman. Does that happen?

My symptoms started with breathing problems in early October. My breathing has gotten progressively worse. Symptoms now also include noticeable atrophy, weakness in my hips/inner thighs/shoulders/upper arms, fasticulations all over and weight loss. Supposedly, though, I have multiple clean EMGS from great hospitals??

A complication... I was diagnosed with Charcot Marie Tooth Disease 1A as a child, but with a mild case. I have been a runner and avid gym-goer since college. However, the doctors swear that is CMT showing up on the EMGs and ALS would show up differently, without a doubt. As far as I know, CMT1A would not progress so fast, nor does it affect the proximal muscles.

Timeline:

- Early October: Hard to take deep breath at times. Chest tightness (intercostals). PFTs show FVCs in the 90s, but significant expiratory muscle weakness. Put on Bi-Pap at night.

- November: Butt muscles gone?? Hurts to sit on padded car seat. Weakness in shoulders and hips... Chalked up to decreased exercise.

- December: Leg fasticulations.

Two EMGs... MGH and Cornell-Weill. MGH thought Myasthenia Gravis, but EMG/blood tests negative. CW confirms. Told anxiety and BFS. *MGH doctor thinks out loud that maybe he should now test for ALS. (Didn't the first EMG do that?) He said it's very doubtful so don't make the trip.*

- January: Fasticulations all over, light cramping. More weakness, including right side of face? Starting to drop weight.

EMG at Columbia. Tech suggests facial weakness evident, but medical fellow later says normal.

- March: Weight down from 135lbs to 120lbs, but eating everything in sight. Constant right shoulder pain and nothing but bone. Inner thighs wasting, first left, then right. Fasticulations in these places. Can't lift weights or walk long distances for fear of inflicting more damage.

Another EMG at Cornell. Told can see sporadic fasticulations on EMG, but that it's normal in 40% of people. Told CMT1A again.

I am at a loss. Can 4 EMGs be wrong??? The last one primarily tested my left leg and arm, but most of the weakness is on my right side. Does that make a difference?

I am getting a colonoscopy on Monday, due to the weight thing and bowel changes. Praying they don't find anything there. I am afraid of the metabolic changes that happen with ALS, of course... but the EMGs?

(For the record, I have been tested for all of the major auto-immune diseases and vitamin deficiencies. My brain MRI showed only a slight pituitary abnormality, but not concerning. CBC panels almost all normal (slight anemia), as is CK level. I've had normal chest and abdominal CTs. I turned down a lumbar puncture due to more radiation and the doctor said it seemed a stretch anyway.)

Thank you for reading (sorry it's so long) and any thoughts would be awesome.

Cari

More strangeness... I also have had autonomic symptoms... Double/blurry vision, dry eyes/mouth, bowel changes.
 
Sounds very weird. Also does not sound like ALS. With so many neurologists looking at so many EMGs, I'd bet it's not ALS. The vision and bowels certainly don't have anything to do with ALS. Fasciculations? Twitches? Could be a lot of things, including stress. Wasting in diverse places: Could be appetite due to stress.

Let's see if other, smarter people can make some suggestions, but I have a hard time connecting this picture to ALS.
 
Two things we know are CMT1a dx and reduced expiratory volume. Can you post or PM your PFT rpt and any notes on atrophy?

Laurie
 
Thank you all very much for the prompt reply. I was trying to reply last night, but I couldn't figure how the heck to post the PFT and wound up deleting this three times, haha. Thanks for the sympathy on the diagnosis. I am so sick of doctor visits!

Mike, I was banking on anxiety until this weight loss. I eat all of the time and even have added Ensure and scoops of coconut oil to meals. A doctor yesterday actually may have given me an explanation for the autonomic stuff. It may be some sort of hypoglycemic reaction to food... an insulin resistance? She has me monitoring sugar levels now. This has added fuel to my fire, as I read a study that PALS can have glucose issues. (Darn Dr. Google) However, you are so right... how can all of those doctors be wrong?

Mindful, I saw they deleted your thread. I actually was hoping to get those markers, as the paraneoplastic thing could be a possibility. (One I wouldn't want, of course.) I was tested for Lambert Eaton and some other antibodies, but I guess those aren't always definitive. I will definitely look into anything pancreatic, considering the hypoglycemia possibility. Would you mind messaging those to me if you can and if it is allowed?

Laurie, I am going to try to link to the PFT right after I send this so I don't delete it again. :) As for the atrophy, it is subjective at this point. I can really see it in the inner thigh, where it meets the pelvis. Somewhere they don't really look at... I also see my shoulders are all bone, but would it be picked up on the EMG? My husband also said last night that I don't look all that much thinner, which is what I thought too. This, combined with the weakness, is why I believe it's muscle.

Even though it may be a bit excessive, I am going to see a local neurologist whom I have a personal connection recommend. I am a bit disillusioned with the big institutions at this point. I felt that some of them immediately went to anxiety if you didn't fit into their expert box. Once you have a diagnosis they may provide more advanced care at that point. Did anyone else feel that way?
 
I am not sure that worked, but I'll give you some of the main numbers:

FVC - 90%
FEV1 - 83%
TLC - 91%
VC - 92%

DLCO - 75%
DLCO/VA - 92%

PI MAX - 143%
PE MAX - 36%

I've had three tests and they are all pretty similar. This is from January. I am not sure if this helps or if there are other numbers you need.
 
Cari,

Some CMT variants have been associated w/ sleep apnea. Your PFTs suggest that possibility should be ruled out, and certainly reduced oxygenation and/or retained CO2 during sleep could affect your perceptions, appetite and the like.

I would get a sleep study and go from there.

Best,
Laurie
 
Thanks, Laurie. I actually had one in October. I was fine as long as I wasn't supine. My concern is that in Oct my FVC was 96%, then 92% in Dec and 90% in Jan. I feel like it's worse now, but I'm going to avoid knowing that number for as long as possible! Plus, I was able to get away with not using the Bi-Pap up until the past month or so, but now I feel like I've run a marathon if I don't, even sleeping propped up.

It could be the CMT, but it's just strange how fast it suddenly seemed to progress. Hopefully this neurologist has some answers; if not, I am done for now and need to accept what I have been told! I guess I would just be becoming one of the more rare cases of CMT1A with breathing issues.

Anyway, I really do appreciate your input. Thank you. :)
 
I'm glad you're on BiPAP, which is well worth using. It's not "set and forget," so if it's not completely comfortable and helping, by all means tweak your settings. Certainly with EF so low, you might check that your EPAP is at the lowest setting and your cycle sensitivity probably middle or high, likewise your Ti Max low to middle so you don't retain CO2.
 
Ok, that is great to know. I will check it. Thank you!
 
Hi All,

This is still open, so I am replying here with more questions as I feel things are still evolving and scaring me more and more. I hope someone sees this and can help!

My three biggest new concerns are:

1. I had a follow-up with my Pulomonolgist yesterday. My FVC has dropped to 85%. We repeated it three times to confirm. In October it was 94% and in January it was 90%. Why a steady and somewhat rapid decline? It is still definitely a muscular issue, per my doctor.

2. Swallowing. I swear it is feeling more and more difficult. I feel like there is constantly something a bit trapped back there and have to concentrate a bit on moving it. I sometimes hold my hand to my throat and move the muscles a bit. Sometimes it seems to help? I have had EMGs in my limbs, traps, and paraspinals, but never my chin or tongue. Would the paraspinals pick up on the breathing difficulty or anything bulbar?

3. My core muscles.... I have recently tried to get back in my old tip-top shape. My upper abs were one of the first things to twitch months ago. My doctor said I was being silly to think anything of it. Now when I try to do sit ups/core exercises, I can do them, but I feel absolutely no soreness in the upper ones. I feel nothing. When I suck in my stomach, you can see my ribcage to the point of looking malnourished. However, my lower abs and stomach still have quite a bit of meat and fat. No soreness after heavy exercise scares me. That's unusual for me. Does this at all sound like what happens in ALS muscle wasting? Could other muscles be compensating, thus I can still move?

Thank you again for any help. I am so confused at this point. I have been told this is anxiety by doctors so many times that I don't know what is real and not. I swear my body is changing in strange ways though (and not consistent with anything to do with CMT) and can't let it rest.
 
Hi, Cari. I wanted to stop in and see how you're doing. I'm not a doctor, so frankly, your situation has me stumped. You're doing all the right things, I think. Best wishes to you. Someone smarter than me will come along soon, I'm sure.
 
Hi Mike, thanks so much for the check-in.

I guess my question for you or for others that come along is would it be prudent to ask for an EMG that tests the chin and tongue (or other bulbar places) or would that be redundant considering I've had my limbs and paraspinal muscles checked?
 
You know, in my fragile memory I think I read a really smart person say once that any EMG will detect the presence of any ALS, but my brain is addled today, and I won't swear to that. I'd like this thread to stay hot until someone smart comes along and answers that, for sure.
 
The EMG will not necessarily show ALS if done in an area that is unaffected. Sometimes it will reveal issues in an area that the patient believes to be unaffected of course.
However, it is not necessary to test every symptomatic area. If one has symptoms that involve multiple areas, say, both arms and legs, it is reasonable and quite usual for the doctor to test only one or two areas and if those are all normal to stop there.
 
Thanks, Nikki. They did the EMG right on my leg, bicep and paraspinals after my last post, and again said nothing but CMT1A in my leg and hands. The doctor then said, though, that he has no idea what would be causing my chest muscle weakness. He said did not feel comfortable doing anything on my chest since it is so close to the lungs.

My FVC has dropped again, so I am still concerned. Plus, since January, the muscle under my right eye and part of my right cheek quiver (not twitch) whenever I smile. I find myself concentrating when it comes to swallowing, especially with the right side.

Thank you again for your input. I just wish I had asked him to test my thoracic/bulbar region too. Maybe that have been more appropriate considering my main concern is the breathing deficit?
 
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