AR ALS/MND

[One2022]

My 8 months EMG repeat is in 2 months to evaluate my ALS/MND. Recently I've completed videofluroscopy that showed dysphagia severity 3 with tongue fasciculations not previously seen 6 months ago by neuro. My recent chest CT showed mild right lower lobe bronchiectasis due to chronic aspiration. My OT recorded grip weakness at 37lb and 38lb and lots of distal hand atrophy. In addition to my whole body constantly twitching, I'm developed now upper right area above my lip twitching as of 2 weeks ago especially after more walking or doing more straining activity with my hands. My leg and hand weakness is noticeably worsening and I'm generally more fatigue worsened by muscle tension.

My FVC and FEV1 dropped in 3 months from 78 to 72 but I was told it could fluctuate. Repeat is in 2 months. All other restrictive lung issues rulled out.

As my ALS/MDN could be associated to my Allgrove syndrome, which is autosomal recessive AR do any of you have ALS subtype that is AR ? Also, any have relatable symptoms above? Thanks!

 

[Nikki J]

It is considered a very tenuous connection. Here it says the association was never replicated

ALSoD

alsod.ac.uk

 

[One2022]

Hi Nikki, what I meant by AR is autosomal recessive types. I read types 1,2,3,5,12 and 16 are AR. But majority of ALS genes as I read are autosomal dominant.
At 16 my needle EMG was normal but NCS showed neurophatic disorder with demyelinatiative damage along median nerve. Had hyperreflexia with no pathological spread but now 25 years later it has pathological spread and my EMG has changed as previously mentioned I'm my attachment. I had no tongue fasciculations 6 months ago but wonder if new tongue fasciculations and dysphagia will be considered a 3rd region. In regards to AR types, given that if it is ALS, this is progressing much slower than sporadic. I still need to do genetic testing but given the timeframe could this be a slow progressing JALS, type 5 or something like that? Wonder if anyone here has autosomal recessive type.
Kennedy disease was excluded by my neuro 6 months ago with CK blood work and hyperreflexia.

Thanks!

 

[One2022]

Also, thank you for the link! Good resource there. I don't know what sequences will be test but these categories are helpful.
I was looking at this site for AR modes of inheritance. I see that few are showing on your link.

<MDA site link removed since includes donation request>

 

[affected]

Please, take all this to your doctor. Your case is complex and is far beyond the expectations of the terminally ill or their carers to attempt to work through without ever once examining you, especially when we are not doctors.
I wish you the best, but you have to work with doctors, not the internet.

 

[Nikki J]

You can”t reliably differentiate FALS versus sporadic ( simplex) ALS by progression rate I know some extremely slow progressing PALS with no known autosomal dominant or recessive mutations. As affected says you need to work with your neurologist and a geneticist

 

[One2022]

Thank you guys. I am working with full force with my whole team that has my neurologist at the head. It's a non stop examination and reports. My neuro was recommended by my endo because she was rare one who knew and had Allgrove patient. Just in past two months I 16 different tests and follow up excluding weekly OT hospital visits. I have volumes of reports that I ask be sent to me. As I mentioned before everyone is waiting for October as than my finial diagnosis should be made with repeated EMG and 3rd PFT test. My date for genetic testing is coming up too that they say could help with diagnosis. Just my inner circle team as of Feb consists of; neuro (1 year), family doc, respirologist, gastrointerologist, neurogastrointeroligist, endo, and also as part of hospital neurological rehabilitation program: occupational therapist, physiotherapist community SLP and clinical SLP. If somehow ALS is confirmed than they say ALS clinic.
Working on my diagnosis is turning into a full time job just attending weekly to things!
I think I need to let go off internet and just let them figure it out. I highly trust them and I'm told I have strong team. Somehow I feel if I read more I can help them too but I think I might be doing just the opposite.
I promise no more! I will let you know in October if there's a final verdict. Right now they're 100% on MND as part of Allgrove and having slow progressing ALS as only possible option. I was considering Kennedy disease myself back in Feb but was dismissed by my neuro. Recently was reading into DHMN and wanted to ask my neuro but I need to let go.
On the other hand it's not easy to talk to anyone aside from my doctors as my condition is highly complicated and symptoms are mix of 3-4 separate major conditions so thank you guys again for taking time to respond to me! I know you guys are fighting your own tough battles. Really, really appreciate it!

 

[lgelb]

I am glad you have a good team. Be aware that if they diagnose MND secondary to Allgrove, there is a tendency to turf you (anyone with serious pre-existing conditions) out to the ALS folk and basically stop worrying about fine-tuning the other things, since ALS is fatal though perhaps more slowly in your case. Pending October, it's a good time to get your ducks in a row relative to any other conditions that need attention.