CALS with possible fALS

[Darius]

My initial thread won't let me update there. I am creating this one to provide updates, as asked. Just wanted to thank Nikki for her help so far.

Background: M, late 20s. 4 known cases of fALS/FTD due to the c9orf72 gene in family. Currently a CALS for my mother who has leg onset.

I've been undergoing testing with two neuromuscular neurologists, but as COVID has caused more issues this year, my appointments have been delayed. I'd be grateful for some advice.

Symptoms: Since January 2020, I have struggled to do things I used to do with no issue in my dominant right arm and have had progressive atrophy of my entire right arm. My last examination (November '20) showed my upper arm (C7, C6, C5), and intrinsic hand muscles (C8-T1) have wasted. Cramping is bad in these areas. I have frequent fasciculation there too. Absent reflexes in both arms.

Tests: First EMG in May '20 came back with no denervation, only widespread fasciculation. My second EMG in Jan '21 showed chronic neurogenic changes in the right arm C6 and C7 distribution. And in my left arm too (C7) triceps, which was somewhat unexpected. No active denervation was present in any areas in Jan. NCS was normal.

Notes: My care team doesn't seem to know what to make of these results and symptoms. The wasting of all muscles in my right arm doesn't seem to be stabilising, nor does the weakness in that arm/hand - which is worrying me whilst I try to care for my mother and keep up with my own job which is dexterity dependent.

An MRI in late '20 showed a herniated disc at C5/C6 nerve root. I have had acute intermittent pain in neck/arm in the past, but never prolonged. One of the neurologists thinks this is novel, and posits that the atrophy could be a cervical issue - but he doesn't want to hang his hat on that until time passes. The other one is suspicious this is more ominous signs of MND, given the pattern of atrophy/fasciculation and wants to review. A neurosurgeon says it's possible I may be experiencing both conditions, but he wants to see me in person, when it's possible which won't be for a while.

Personally, I'm not sure how the hand muscles innervated by the C8-T1 branches, and arms muscles C5, C7 would be affected by a disc issue at C6? I know many folks with ALS who simultaneously have spondylosis, or CR and pain along with their MND.

Any thoughts appreciated. All the best to everyone on this forum PALS/CALS alike.

 

[Nikki J]

What is your c9 status?

I don’t see that you can do anything about this right now. Sometimes neuro things have to evolve ( or not) even without covid

 

[Darius]

Still in waiting, done the counselling - voiced my wish to do the blood test. But they won't let me back in the building until this is over.

 

[Darius]

Nikki, slightly tangential, but I have finally been contacted by the GENFI study near me and I've signed up to aid with research (they open up later in year). It doesn't mean much for my diagnosis, but I'm glad I can participate going forward.

One researcher who has also got in touch, sent me a study that infers that certain hormonal deficiencies could lead to early onset. I'd like to run this by you, if you get any time to peruse in the coming weeks? I'm not sure if you've seen any research implicating how DHT has notable neuroprotective benefits before, but here is the study from October 2020: https://onlinelibrary.wiley.com/doi/full/10.1002/brb3.1645

Also, paging Laurie, @lgelb, just wondered if you had any opinions given your expertise in spine issues on original post above? Many thanks.

 

[Nikki J]

It is interesting research and there have been anecdotal reports of people feeling supplementation helped. They need more research

 

[lgelb]

It is pretty common for the MRI not to see adjacent spine issues. With issues at C5/6, it's very common to see C6/7 clinically if not on disk, and so on. There are more advanced ways, like a myelogram, to image the spine if needed. The absence of acute denervation continues reassuring as regards MND.

Also keep in mind, it doesn't take a damaged disk to cause localized nerve damage. It could even be an injury incurred in caregiving, and there are pain/wasting syndromes with shoulder origin. Did you ever have physio?

Best,
Laurie

 

[Darius]

I will note this. Thank you Laurie @lgelb

I did see a physio a while back, whenever I had pain, but since I've been referred to the MND clinic, I've not seen much of them. I think because of my familial status, they're more zoned in on MND. And I'm not familiar of any pain/wasting syndromes with shoulder origin - do you think my symptoms could overlap with one of those?