Do I have ALS?

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zoe831

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Hello all,

I've had a really crazy couple of years. In Dec 2019 my back locked out of the second time in TA training. This time it didn't get better by the May 2020 my legs both had pains down both and I could hardly walk. I developed cauda equina syndrome, operated on emergency. When I woke from the operation I could not feel my right leg and my two toes wiggling on their own, CFS leak. It took me two months to learn to walk again and to get my foot moving, although I do have slight reduction in my right side now, numbness and excruciating pain down my right side. Three months later had a second operation again complicated with the CFS leak he did the next level down. I have no change on this operation.

The time of my first operation I've noticed my right hand locking out and freezing when it was cold out of an under `a tap. When I was eating my right hand with spasm out and I'd have to peel it. I was so busy trying to get myself better from my spinal injury that I had taken much notice and thought it might be carpal tunnel. But then that year later it started to go into the left hand and now it's at both arms and the tops of my arms I've got excruciating pains pains down into my fingertips muscle wasting, twitching. Ive not conduction blocks or antibodies showing. Anything that showed up was a gad 65, have a neurologist said that he might be a false positive as I had IVIG treatment.

Had two rounds of IVIG is not much success, I thought from my twitches do seem to have calmed down a bit but still getting them. I'm due for another round at the end of March. As you can imagine my mind is going crazy they have said on paper I look like I do have ALS she would've thought that would have developed faster, I've got a little less weaker in the 6 months but pains and spasms in feet(maybe from his previous operation) my hands are getting much thinner and I've noticed today that my right little finger I can't spread out I can meet every the way but not outwards, the fatigue is horrendous and the spasms at night time in my feet and ankles are killing me and my shoulders are hurting from arms pulling down.

Can anyone else going advice on where I can go is this? Anything else to test or try? How long does it normally take before they get a definite diagnosis?
 

Nikki J

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You did not mention an emg? Surely you have had one?

what are the qualifications of your current doctor? Where specifically are you being seen? What were they attempting to treat with ivig? Excruciating pain does not sound like ALS onset but more information would be helpful including the results of your clinical exam

what are you being told for a diagnostic plan?
 

affected

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This is a complex case as you know.
I am wondering if there has been an EMG you can tell us about as all the pain etc doesn't sound at all like ALS
 

zoe831

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Feb 24, 2022
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DX MND
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04/2022
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Thank you for your reply, yes I've had 4 lots of EMG tests. Ive copied my docs notes IVIG is being used just in case of MMN

- Wasting and weakness in the intrinsic hand muscles first noted by the Medical Team in May 2020, ie more than 21 months history. Pure motor syndrome with denervation on EMG (Jan 2021)
- No imaging evidence of thoracic outlet syndrome, negative antiganglioside antibodies, no conduction block. Possible distal hereditary motor neuropathy, currently awaiting gene testing, spinal muscular atrophy genes were negative
- Significant fatigue, pain, aching in muscles and widespread cramping.
- Significant wasting in her intrinsic hand muscles as well as slim arms. The legs looked normal. However, despite this power was today normal apart from first DIO and ADM grade 4/5 and APB 3/5 bilaterally. The right ankle dorsiflexion was weak at 2/5 and EHL 2/5 subsequent to cauda equina surgery.
-Today her finger extensors on the left ankle were strong in comparison with three weeks ago. There were some hints of hyperreflexia with spread of the biceps and supinator jerks to the finger jerks and brisk triceps jerks. The left knee jerk in particular spread to the opposite side. The right ankle jerk was absent, but that on the left was present and the right plantar was possibly flexor and extensor on the left flexor, There continues to be some sensory disturbance particularly on the lateral border of the right leg after her surgery.
- The snapshot signs with a mix of upper and lower motor neurone apparent signs together with denervation on EMG would be more compatible with motor neurone disease. However, a more than 21-month history with only intrinsic hand muscle weakness would be a unusual as would be very profound symptoms of spasming, locking and generally features of hyperexcitability.
 

Nikki J

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If this doctor is not a neuromuscular/ ALS specialist and this round of genetic testing is unhelpful you should probably see one. If they are maybe you should anyway as a second opinion. There is a form of MND that is isolated to one upper limb but your other symptoms are , as your doctor notes, unusual. Of course your back history also complicates things.
it is of course so frustrating for you to have these things happening without answers and I know covid has made appointments difficult and there are waits with the nhs. Still there are outstanding doctors in London so I hope you are seeing one of them. If they have come to the end of their workup though they should be able to facilitate a second opinion. The best doctors know that even they can miss something and a fresh pair of eyes can help
 
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