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mummy24

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I posted a few threads a while ago as I am in the process of looking for a diagnosis. My neurologist thought from the start that my condition is likely genetic and that is still the case. They thought it likely that I have a rare type of charcot Marie tooth or a rare type of hereditary spastic paraplegia.

Had a normal MRI ,and my emg confirmed that I do NOT have a hereditary neuropathy which rules out Charcot Marie tooth among other conditions. They did find something abnormal on my left wrist during my emg which apparently can point to central nervous system damage. I have a definite upper motor neuron condition which is apparent as I have spasticity, weakness, cloness, hyper reflexes etc. In my notes it says the abnormality on my emg is called an f wave repeater...don't think its anything too significant but don't understand to be honest.

The odd thing is, I have definite muscle wasting which is symmetric in both of my lower legs, this has been confirmed by several doctors. But shouldn't people with my type of muscle wasting have neuropathy that is detectable by emg? my doctors can't seem to tell me why I have atrophy.

Definitely don't have ms as I have pes cavus deformity in both my feet and apparently this does not occur in ms. Have one cousin who has been diagnosed with a very rare type of ms but that is the only other person in my family with similar symptoms.

Symptoms are mild compared to some people but I'm still very young so future problems are concerning, I count myself lucky that I can walk most of the time although I've had episodes of heavy legs and shuffle when im tired which make it very hard to walk. Had episodes of lower back pain too.

Now its looking increasingly likely I have a rare type of HSP...a HSP with additional symptoms of atrophy amongst other things. Confusing stuff. I definitely don't have pls or als although i share similar symptoms.
As I understand, hsp and pls are in the same family.

Take care everyone. I'm sure many of you are in the same boat as me so it helps to share information and updates.
 
HSP and PLS are in the same family where UMNs are concerned. The main difference is that PLS is a pure UMN disease, and HSP is an UMN disease plus other things.

In pretty much every variant of HSP, the pattern goes likes this: Something is built wrong by your body because of flawed DNA, and the result of having that something built wrong starts a cascade of UMN damage in the section of your spine that deals with the lower half of your body. What is really amazing as they piece out the now nearly 50 known causes is how variable that original "something" can be, despite the relative uniformity of the core symptoms of HSP. I sometimes think our bodies are just waiting for an excuse to bust up our UMN's!

What happens though, and this may explain your atrophy, is that the original "something built wrong" causes problems besides starting this process of UMN damage off. So, in my case, my HSP mutation makes a particular kind of mitochondria wrong. They don't do the job they are supposed to do, and that has it's own effect. For instance, at least a decade before I had any arm/wrist involvement in my UMN issues, I had chronic muscle inflammation and breakdown in my wrists, and the same story goes for my jaw. That wasn't early signs of UMN anything, it isn't even neurological, it was just the result of the basic mitochondria issue. Generally, it seems like the HSPs caused by neurotransmitters being built wrong have less complications, and the ones from other things being built wrong have more of them.

I assume you haven't had the genetic tests for cost reasons?
 
Thank you so much for your reply, as always you are so very helpful. That explains it a million times better than anything else I've read.

Well that really explains my additional symptoms then, probably why my doctors seem to be talking about it being a rare type of HSP, especially after tests have ruled out pretty much everything else. My geneticist has actually seen cases like mine before so she seems to know her stuff, as does my neurologist, who told me very quickly that HSP is the most likely cause.

I didn't know that mitochondria problems could be part of some types of HSP.

I have to wonder what other symptoms may be part of my condition and perhaps whether my brother has the same mutation as me. He has many symptoms but many of his symptoms are different to mine. He has never been able to run, write or ride a bike etc and has been diagnosed with an autistic spectrum disorder and dyspraxia. I think he should be examined by the genetic dept. I have some concern about my daughter too unfortunately. She is only two years old but myself and my family are concerned with her feet, as her walking is getting clumsy to the extreme and her feet are turning in worse over time. When she walks her feet are so turned in that they cross over each other and trip her up a lot. I feel very sad that I may have unknowingly passed this on to her.

I also wonder my episode of weakness after I gave birth could be part of this condition. Right after I had my daughter my arms got very weak and I struggled to lift my daughter, but eventually regained my strength weeks later.

I have been tested for defective genes called spastin and alastin but I think I'm away to have further gene testing. I'm sure you mentioned that your faulty gene has been found, is that correct?

Thanks again for your help.
 
Yes, I have a variant mutation of SPG7 "paraplegin". I was blessed to have insurance that covered even genetic testing at 100%, though we only did the recessives since neither of my parents have my problem. It is a mitochondrial HSP. The muscle inflammation was bad enough that in high school I couldn't finish a one page essay with one hand, so I learned to write with both and switched as the pain got too bad in the one I was using. I can't imagine what my teachers thought about my handwriting!
 
Hi Beky, ah yeah I do remember you mentioning spg7 before, just noticed it says that in your signature. That is fortunate that your insurance covered the genetic testing. Athough I guess finding the exact cause doesn't change your situation, it's always good to get answers for what you are experiencing. Sometimes the hardest part is not knowing.

The Mitochondrial symptoms sound very frustrating, are they progressive symptoms like the spasticity/ weakness?

I'm finding it really hard to deal with the unknown, it's a waiting game and Im so concerned that I may have unknowingly passed down a condition to my daughter, my genetic doctor said she thinks it may be a 50% chance that my daughter has this if it is a dominant gene that is. I still have no idea if it is recessive or dominant.

Denial is my friend, I often tell myself that my doctors are wrong and there must be an easy way to explain my symptoms. Denial is maybe helpful in some ways, but in other ways it is not. I don't want to be in denial if this is something my daughter may have as I want to deal with this properly for her... I notice some symptoms in my her but I'm finding it so hard to accept that I have something wrong, let alone that I have maybe passed this on to my daughter...I want to be strong for her. My partner is very very much in denial and pretty much hates talking about my fears....on the days where I can't walk well he gets frustrated with me. I feel so embarrassed that some days I walk like an old lady. Not many people understand neurological issues.
 
*hugs* I am so sorry about your family difficulties.

The mitochondrial problems weren't progressive, and ultimately neuro symptoms crowded out the space they took in my problem bucket.

For me knowing it was SPG7 was nice, but the decision to move on and live my life with whatever I had was long in the past even then. As things continued, it did help with the resolve not to go to a lot of unnecessary doctors visits and undergo more tests, and occasionally to feel less crazy. ;)
 
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