I know I have a serious neurological illness, but not which one yet.

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KatharinaRose

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I was diagnosed with Charcot-Marie-Tooth two years ago. Last Friday, my doctor wanted to know if I wanted her to write a prescription for a wheelchair. I said no. I try to walk as little as possible, and I have walkers. CMT is supposed to be slowly progressive. NOT. My proximal muscles are affected. My entire leg will go numb in the middle of walking. In Flex AFOs, I still have steppage gait, because I can’t just put my heal down without losing balance.

My physiatrist tested my reflexes- all clonus, except for my ankles, which have no reflexes. She said I have the Hoffman’s sign on my hands. I wonder if I gave the split-hand sign, since I only have atrophy on the thumb side of my hand, between thumb and forefinger. My left hand is noticeably smaller than my right.

I have exercise intolerance. One 20 minute PT session will leave me aching in bed for 3 days or more. I’ve lost more than half my leg strength. I cannot get up and down from a chair to do “sit to stand” more than about 4x. When I could do it, my score on that test was as low as an 80 year old. I get sets of shivers, like 20 or so traveling together under my skin.

Every time I open my mouth in a mirror, I see my tongue twitching involuntarily. My feet do too, but just sometimes. My physiatrist says I definitely have a serious neurological disease- She thinks it‘s MS or CIDP. I asked about ALS, and she said no. I developed lots of odd eye problems last year- kerataconus, convergence insufficiency, and diplopia. It doesn’t come and go. It’s permanent. So, I probably have MS because of eye problems, right? I also have cog fog and can‘t organize well.

In 2 weeks, I meet with a neurologist. I know you aren’t diagnosticians, but does this sound like your story at all? My physiatrist said if I gave more problems before the neuro appointment to go straight to the ER and not to her, because a neurologist might be there.

All of this happened in just two years. I had my whole Exome analyzed. I have zero genes linked to any conditions. Still, I could have de novo CMT with another disease, or it could all be part of one. All I know is, I’m not far from a wheelchair, and I try to move as little as possible to conserve energy.

I hope you will also tell me no, it can’t be ALS, and not to worry about it, so I can go on my merry way.
 

lgelb

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It seems very odd that MS and CIDP would still be on the table for your physiatrist if the neuro has made a definitive CMT diagnosis using the EMG, perhaps a nerve biopsy, and clinical criteria. Any PMR treatment plan should at least have the type narrowed down. Feel free to post your EMG if you want, but I don't see any reason to think about ALS.

It is not common but not unknown for CMT patients to ultimately use a wheelchair. Of note, if you delay using devices you need, you could progress more quickly. Since there are both sensory and motor deficits, numbness is pretty common.

Some types do affect the eyes, like Type 6, which can also affect cognition. Again, I would have thought you would be given a type so you could plan accordingly. I would also encourage you to make use of the CMT Association's resources; I see a page on Oregon clinicians. Unsurprisingly, it looks like OHSU is the place to go, perhaps for a second opinion if needed, if you haven't.

Best,
Laurie
 
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KatharinaRose

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Thanks, everyone. my initial presentation was classic CMT. I may still have that, but my symptoms have changed. My upper neurons are most definitely involved now. It’s incontrovertible. They were not involved when the neurologist did his full workup two years ago.

My CMT is type 2, axonal. It is impossible to get a subtype (such as 1a or x1) when you have a completely clean exome report. None of my genes are pathogenic, and so you can’t find out a subtype without corresponding genes. The fast progression and the large amount of upper motor signs has assured my physiatrist that only a neurologist can help me from here out. She has never questioned my CMT diagnosis. Also, long muscle fibers are affected, while I have heard that in ALS, the damage pattern looks more diffuse.

So no, it is absolutely impossible that this is only CMT. My symptoms are upper and lower related now. CMT can affect every
peripheral nerve in the body, and some parts of the CNS to a certain degree, based on subtype- (with absolutely no upper motor neuron involvement). I definitely feel the change and exacerbation of all symptoms, including the new upper ones. I don’t have type 6, which can cause blindness. Type 6 is a demyelinating variant anyway, and only my axons are destroyed while the myelin is left alone.

I just have a lot of vision decline. Still, CMT never involves upper neurons- never. Even cranial nerves are semi-peripheral, and can be influenced by surrounding peripheral damage. That shows we cannot preclude that my matching a different disease phenotype is impossible if it’s not being entirely CMT.

My question is whether we can rule out ALS most likely and consider the possibility of MS more? If enough people say this could not be ALS, I will happily leave the forum. THAT is my question, please.
 

Nikki J

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The vision isn’t ALS. If that is part of what is going on then it is something else. If you have at least 3 issues ( CMT , vision loss and new disease x) I suppose it is possible though I am guessing it will be something else.

your situation is extremely complicated and we certainly can’t tell you want the answer will be. I hope you are going to an academic medical center as Laurie mentioned above because you need someone expert to work through all your symptoms.

I actually knew someone who had FALS and CMT ( genetically positive for both). What you describe doesn’t sound like what I remember but I do know she had to go to two major medical centers to get the CMT diagnosis added to her known ALS.

please let us know what happens
 
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