Motor Neurone Disease/Hirayama Disease/Brachial Neuritis

[DW7186]

Hello I have read the rules before posting and am hoping to find someone with any similar experience.

I was referred to rapid neurology after severe atrophy of my left shoulder which then progressed into the lower arm and hand.After nerve conduction study showed denervation of the motor nerves in both arms despite having full function of the right one.My neurologist advised he would be investigating me for Brachial Neuritis, Hirayama Disease and Motor Neurone Disease. Am UK based.

I have undergone a brain MRI cervical MRI and further nerve conduction study this past week(the technician doing the study advised there is still denervation showing). My appointment with my neurologist is not until December. I am not looking for speculation on diagnosis. I am looking to see if anyone has had any kind of similar presentation or experience?

Thankyou for taking the time to read and if there is anything I should not have posted or have posted in the wrong place or indeed the wrong type of forum then please remove.

Denise

 

[lgelb]

Hi Denise, I'm sorry to hear there is concern for MND in your case.

My husband's onset of weakness was in the upper arms, bilaterally, before moving downward. The muscles disappeared and the upper arms had no tone; their movement was the first to be lost. The EMG showed acute and chronic denervation in all limb muscles tested, as did a second EMG at a major academic center. In both EMGs, of the muscles tested, his masseter muscle was least affected.

He was diagnosed with ALS after the first EMG, and the second was merely a confirmation. He had the flail arm variant, also known as the "man in a barrel" syndrome, because both his arms resembled a stick figure. In some photos from that time, when he holds his arms behind him, you cannot even see that he has arms.

In time, all regions were affected as is typical in ALS. However, some people with flail arm onset do not progress in all regions as he did. Nonetheless, not all the muscles were affected typically; he was able to speak and eat a limited diet throughout.

And of course, it's still possible that you do not have MND.

From your description, Hirayama is less likely because it typically begins in the lower arms in Asian males. Whether brachial neuritis (an umbrella term implying the condition would remain confined to the arms) or full-on MND is more firmly on the table would in large part rest on whether any areas besides the arms were tested, and whether acute/chronic denervation was present outside the arms.

However, as my husband's case illustrates, even in MND, bilateral arm onset often presages a longer course and atypical progression, which has been documented in the medical literature as regards the "flail arm variant," if that indeed is what you have. He was diagnosed in 2009 when he was 60 and died in 2014. Other flail arm PALS I have known mostly had shorter courses; I believe older onset could be associated with faster progression, as in other forms of ALS, from my limited sample.

Best,
Laurie

 

[DW7186]

Hi Laurie,

Thankyou so much for your reply, I really appreciate it and thankyou for telling me about your husband.
I have been trying to objectively research each thing I was told and did come across flail arm syndrome. In my case it was definitely proximal, the shoulder girdle wasted within months and I was actually diagnosed by a physio as having rotator cuff syndrome. It started in 2019 after emergency breast surgery for an infection. (Hence the delay in referral to Neurology).My arm also resembles a stick and similar to your husband, in photos you can not even see it in certain positions.

Hirayama disease probably confused me the most as it is typically billateral onset in young asian males. I am 41 female in the UK, I could only actually find one confirmed case in the UK from 2017, although I know it has been found in other countries. I don't know if my Neurologist mentioned it purely as something he needed to exclude or whether he genuinely thinks there is a possibility. At the latest nerve conduction they also asked me if I had heard of multi focal neuropathy with conduction block( I had explained to them what I had been told so far).

I wont get any updates or results till my December appointment so it's going to be a case of keeping hope that it stays confined to my left arm, while also being realistic about what potentially might be lying ahead. Not the most pleasant juggling act! I will come back and update here once I have new information from that appointment.

Thankyou so much again for taking time to reply. Best Wishes Denise

 

[49UK]

Dear Denise

I am sorry to hear you are going through a difficult time of uncertainty with regards to a diagnosis, I hope that you are able to achieve some answers soon and sorry the wait is so long.

I am not really sure that I have anything of great help to add, but curiously the only differential diagnosis the doctor referred to at the time of my MND diagnosis was Hirayama, although I was surprised having read a little of this condition (as Lauria indicates, and I had picked up from my reading, it is a disease more typically seen in Asian, adolescent males).

At my first neuro appointment pyramidal signs were also clear which I thought ruled this disease out however following my first clean MRI a further MRI with gadolinium contrast in a flexion position was ordered to evaluate this possibility.

Can your GP help to expedite a follow up with neurology for you before December? The limbo period of not knowing what you are dealing with can be the most worrisome of all.

Good luck in finding answers.
Warm wishes
Karen

 

[49UK]

Hi again Denise

I hadn't seen your latest post prior to sending my reply to your original message. I am also female, 49 and based in the UK, the Hirayama is curious indeed.

Our clinical presentations also appear rather different. Looking forward to a follow up appointment and a chance to ask some questions I when I get to see the MND team (I was diagnosed a week ago), still waiting to be contacted.

Best wishes
Karen

 

[DW7186]

Hi Karen,

I really appreciate you taking the time to reply, thankyou for that and I am sorry to hear of your recent diagnosis. I really genuinely hope for you that you get that follow up appointment soon.

It's interesting you mentioned the flexion MRI, I have started compiling a list of questions for my neurologist so I come away with as much clarity as possible in December. I am going to ask him if that was done (I had to have MRI under general anaesthetic due to claustrophobia). I also put in some feedback through PALS because neurology arranged for MRI and follow up nerve conduction literally within weeks (as I imagine you well know, very unusual for NHS given wait times.)Then arranged this appointment with my consultant neurologist in December. I found it strange given they told me they could not wait 6 months (standard NHS MRI waiting time) and put me on a cancellation list to get it done asap. Hopefully I can get some answer through their service.

Although it is a limbo period till and emotionally difficult, in a strange way from what I now know about MND and now knowing its a case of excluding literally everything else I've kind of resigned myself to no news is good news. But hopefully PALS can advise why that appointment is so far in the future.

My thanks to you again, I wish you all the best for now and will post any updates here as and when I get them.

Best Wishes Denise

I just wanted to add a quick note to say my mention of PALS refers to a UK NHS service patient liason service. I know it is an acronym used on this site with different meaning.

 

[KimT]

Hi Denise,

I post on the UK forum, too. I know the wait is typically longer across the pond than it is here but even at Mayo Clinic the neuro wait is over a year due to the backup from Covid (I'm referring to the Jacksonville, FL branch.)

Is it possible that your consultant can advocate for you to get in faster?

I hope it's something else or, at least, very slow progressing.

Kim

 

[DW7186]

Hi Kim,

Thankyou so much for your reply.

The fact they acted so urgently actually gave me less hope.

For context, in 2019 I had emergency left side breast surgery for an abcess,they leave the wound open for a period of time to ensure drainage.When I finally recovered it was the start of covid and I was sent to work from home. Im not one for exercise but I love to dance so I was determined to stay active. I noticed I couldnt raise my left shoulder and just put it down to surgery recovery.I went to a private physio in aug 2020 who diagnosed rotator cuff syndrome from unusing the arm.I then lost entire use of arm and hand.

After I started going back into the office, people were asking why they could see bone on my shoulder through my clothes,but unfortunately at that time, I had already started private testing for unintentional weight loss and found I had kidney disorder which was a birth defect and I was so shocked I put my efforts into that.

I'm not sure I would welcome a sooner appointment, if they think December is a fair observation period then good, maybe its a state of denial given the urgency of MRI .I'm taking a stance no news is good news, despite the ongoing concern.

Best Wishes, Denise

 

[DW7186]

Hello,

I'm looking to seek some clarification.I must stress,I'm not looking for diagnostic speculation.

I'm still awaiting my further nerve conduction and MRI results since being advised I was being investigated for MND,Hirayama Disease and Brachial Neuritis.I've been told thats 8 weeks for results and I am booked to see my consultant in December.

In the UK on the NHS we get told test results,rather than what I've seen on here about people being given the full report. So I did some digging and got full access to my nerve conduction studies from March ( which prompted my referral to rapid neurology)

I'm a little frightened to google it, for context,my left arm and hand is totally paralysed with some preserved finger movement. I first noticed something off in 2020 after I couldnt lift my left arm above my head. It was diagnosed initially as a rotator cuff issue.

Could someone help me to understand what unstable polyphasic motor units are? I have full function and no clinically observed weakness in any other limb apart from the left one.

Thankyou in advance and best wishes,Denise