Progressing symptoms

[Suzannah]

Hi all, I used to post here a few years ago in the HSP/PLS forum after being diagnosed at Houston Methodist with the UMN disorder HSP, based on spasticity, hyperreflexxes, clonus, and increasing difficulty with walking. I later went to the NIH to be in a study for HSP and was told that I didn't have it, but that they could not positively identify what I did have. I am currently 41/F.

Things progressed kind of slowly for a while - I started wearing AFOs about two years ago due to falling and instability, the muscles in my hand started atrophying, which led to loss of strength and function, I started having some trouble initiating speech. But I've been plugging along.

But in the last couple of months, something has shifted and things have sped up dramatically. I'm starting to have twitching in the muscles that are atrophied, cramping in my hands and feet, but also weird places like my abdomen, and very sudden and very clear atrophy in various muscle groups. The muscles on the inside of my forearm are rather dramatically disappearing, as are the muscles in my lower leg.

I've read here long enough to know that the length of time that this has gone on makes it unlikely to be ALS, but the addition of the atrophy (medically confirmed) and twitching and cramping, on top of already-known UMN symptoms is concerning. The muscles that are atrophying the most are left side arm and right side lower leg, which I believe is an unusual pattern, too, right? I think I have heard Nikki say that the most common pattern of progression is usually leg to other leg, or leg to same-side arm (or vice-versa)?

Thanks for any advice or info. (And I'm working on getting in to see a neuro - I'm currently neuro-less at the moment).
Suzannah

 

[Nikki J]

I am sorry to hear this. How much loss of function is there and which seemed to come first atrophy or function loss?

if I remember correctly you were evaluated at Houston medical once are you trying for there again?

 

[Suzannah]

Hi Nikki, thanks for the response.

After I wrote at the end of October, I tried to get in to see a neurologist, but was told it would be June before I could be seen. I was able to get an earlier appointment in Feb in another town but just recently was able to get one at the end of January in my own town.

In the meantime, I was able to take care of some things on my own - got a repeat brain MRI done (everything stable), some bloodwork (normal), and went to a hand clinic to get an assessment done on my hands. The hand therapist confirmed that there is significant atrophy in my hands, and that my grip and pinch strength are about 1/3 of what they should be.

The same pattern of atrophy is now showing up in my feet - all the little intrinsic muscles are disappearing.

I'm all over the place mentally about going forward with any more testing/medical appointments at the moment. I will likely keep the appointment in January, but I don't know if I will go any farther than that right now. I've ruled out the treatable stuff by now, so there's no danger in missing something that could be fixed with timely intervention.

I always want to know everything about everything, especially my health. But right now I feel like I'd rather just not know until I have to know, if there's something to know. But I don't know ....

 

[lgelb]

Hi again, Suzannah. Sorry that you find yourself back here.

Without pretending to know what the NIH saw or didn't, the addition of significant amyotrophy in multiple regions and upper limb impairment would seem to suggest that complicated HSP might be in play as regards the differential. Though that and related disorders are not treatable in terms of disease-modifying therapy, there could be implications for a physical therapy regimen.

Best,
Laurie

 

[Suzannah]

Well, tomorrow's the day. I have an in-person neuro appointment in the morning. I usually go to my appointments by myself, but a friend is going to FaceTime into the appointment with me for support. I'm pretty nervous. Wish me luck?

Suzannah

 

[ShiftKicker]

Absolutely the best of luck. Thinking about you and hope for 1) good news and 2) some answers finally.