I need clarification (MND; possible diagnosis ALS)

[Xandr0s]

Hi, I have been under supervision, for 4 years now. It all started with noticing that I could not lift the pinky finger of my right hand, and slowly it has spread to the entire right hand. I can not lift the fingers of my right hand (say no more than 10 degrees from vertical down, and with some exertion, they completely drop). I'll try to summarize the clinical findings below.

AGE: 22, Male
Age of onset: 19

Physical impairments:
1. Right Distal Hand Weakness x 4 years
2. Mild Left Distal hand Weakness x 2-3 years
3. Speech stammering x 1-2 years

Clinical finds:
1. Hand atrophy
2. Tongue atrophy, tongue fasciculations
3. Left babinski - Extensor
4. Hyperreflexia (One doctor wrote Brisk DTRS [Right > Left] without Clonus)
5. Brain MRI's are normal.
6. Cervical Spine MRI: There ware findings on circumferential disk bulge CV5-CV6 with no nerve root compression, and posterior central annular tear CV5-CV6.

EMG/NCS:
My Neuro was following diagnosis based on Localized Anterior Horn Cell Disorder based on EMG/NCS done roughly 8 months back. He asked for repeat of EMG/NCS, and Brain,Cervical MRI, along with Lumber Puncture tests. Unfortunately, he is (a military doctor) unavailable to me now, and I decided to continue the follow up with his replacement.

The EMG/NCS I had repeated (about 2 months back now) stated "The present electrophysiological studies are suggestive of Chronic Anterior Horn Cell Disorder involving C7, C8, T1 (Rt) only. There is no progression in condition compared to previous report.". However, the new doctor has asked for a new EMG/NCS, he recommended a different Clinic to confirm MND. In addition he asked for Copper and Vitamin B12 levels.

I am due for my repeat of EMG/NCS. However, my copper levels came really low and that's what actually got me here ( I have been researching if copper deficiency has any link with MND/ ALS). My results indicate 49 ug/dL (normal range: 70-140 ug/dL).

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What really confuses me (and at times angers) is lack of diagnosis. I understand that doctors, esp if they take you up as a new case (and I have changed my neuros a few times; either due to finding incompetence or moving), are hesitant to declare anything related to MND. But I have heard ALS in discussions, a slow progression. But I have not really found material indicating to slow progression of ALS. If anyone has slow progressing ALS, or localized MND, can they help me out here? Is it possible to have ALS with this progression rate?

 

[Xandr0s]

To clarify, the disability in hand is limited to the fingers, the wrist functions as it should, i.e. I can move the wrist up/down/rotate.

We did not pursue it a lot initially as a doctor wrote it off as an episode of Transverse Myelitis, and second opinion said we need to see if it progresses as it is not very visible at this point and to continue physical therapy. We really started exploring and re-visiting physicians year 3 onward.

And to use the word incompetence for a doctor is very rude. To think back after few hours, it is often that the doctor doesn't specialize in certain domain or lacks experience and refers out to someone else. I should not let the mood sway my words.

 

[Nikki J]

2 thoughts. Until your copper is properly replaced I do not think anyone can evaluate you fully

Look into monomelic amyotrophy. You are the correct age,sex and ( based on your location) perhaps the right ethnicity to be in the highest risk group for this

Good luck

 

[Xandr0s]

I have looked into it, and it sounds very plausible, and very assuring. It does leave explanation for bulbar symptoms and twitching (hand) tho.


Thank you so much. I will definitely bring this up in discussion with my neuro on the next visit.

 

[gooseberry]

Diagnosis for most neuromuscular diseases take time. Getting The answer isnt all its cracked up to be.