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mummy24

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Learn about ALS
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Hi all...i previously posted a thread as i was concerned i had pls. I have had further tests, an MRI and appointments with a geneticist. They have determind that i have a genetic condition and not pls or progressive ms....they have given me a likely diagnosis of HSP, they also said there is an outside chance that i have an unusual type of charcot marie tooth disease.

The only thing that i feel unsure of is the fact that i have weak hands and my fingers are starting to bend slightly...and hsp should not have involvement in the upper limbs...apart from very rare types. But my doctors are fully aware that i have weak arms and they still strongly believe it is hsp.

Some of you actually said it sounds very much like a genetic condition so you were spot on. Thank you for your help.
 
The informal name for people with HSP that progress into the upper limbs without Troyer's or Silver's is "HSQ" or "Hereditary Spastic Quadriplegia". I'm in the same boat as you, there. On a practical level, this leads to having the UMN progression of PLS with the collateral problems of HSP.

If it helps, I've found it most useful to write "HSP" on medical forms than explain that I'm a quad instead of a para later to doctors, but I generalize for the public when asked and say PLS. I do this because looking up HSP causes them to come back and ask why I use a powerchair, whereas looking up PLS gives them a good idea of where I'm at. Most people are interested in the nitty gritty, anyway.

Did they find a particular HSP mutation? It can help to know what the common extra effects (beyond the UMN stuff) are.

I am not always the best about checking here, but if you run into one of those things that our forum doesn't support the best that happens in more HSPish situations: bowel and bladder spasticity, low level sensation loss, etc, feel free to PM me. I will get back to you.
 
Hi there, really appreciate your response...interested to hear from you particularly as you also have a genetic condition.

I have never heard the term HSQ but it does better describe the situation for those of us with upper limb involvement.

My geneticist is doing tests to locate my gene mutation...they are testing for a spastin mutation firstly, due to spastin mutations being the most common cause of hsp, if this comes back negative they are going to test for rarer
mutations. I will pm you. Thanks again.
 
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