Hi All, my first post here.
My doctors are positive I have a progressive neurological condition of some sort. They are learning towards a genetic cause, but apparently my set of symptoms is not all that straightforward as I have a mix of upper and lower motor neuron signs. I have foot defortmities, spasticity, weakness, gait problems which can progressive very suddenly and then improve slightly.
I have a few beats of clonus in my ankle. Cold extremties. Reduced sensation in the pin prick test in my feet. I also have some muscle wasting in my extremties which is getting worse. My reflexes are hyperactive too.
The problem is also in my hands it seems, when I was younger I had weak hands and I still do....I am having increasing problems with fastening buttons on my daughters clothes. My fingers are starting to bend...it's hard to straighten my fingers and in the cold they claw up even worse.
Basically what I have is rare apparently...mild symptoms have gone back to childhood but it was in my teens it started to progress and then again it got worse after the birth of my daughter.
I have had a clean MRI all the tests for genetic disorders have come back negative so far...have been tested for Fredreich's ataxia, common forms of Hereditory Spastic Paraplegia,...also various other tests for possible causes seem to draw a blank. At first my doctor seemed to think I had Hereditory Spastic Paraplegia, but now he is not sure as I have additional symptoms that due not fit with HSP. A possible diagnosis of Charcot Marie Tooth has been mentioned although once again my symptoms do not fit well with CMT either. Even a crossover mix of HSP / CMT has been mentioned but again this is even rarer.
No one in my family has feet like mine, although my brother is having slightly different neurological issues oddly enough.
Will try to get 10 posts so I can post photos of my dodgy feet,]
Any ideas what on earth this could be?