Idiopathic Neurological Condition still no diagonsis, advice needed if poss

[Louise1980]

Hi Everyone,

I hope I won't insult anybody by posting here, so I apologise in advance.

I have been under a neurologist since 2013. I had symptoms consistent with a non- length dependant peripheral neuropathy, so does my sister. It came on with symptoms of burning pain, numbness, stabbing pain etc. We were both sent for skin biopsies, which came back positive for both of us. However we saw a genetic professor of neurology who examined both of us in 2017, who felt my results were in the normal range and said he felt I had a nerve dysfunction, he believed my sister's biopsy was in keeping with a small fiber neuropathy. I never had an EMG test, only a neurological exam which all came back normal. I have had numerous neurological exams over the years, always coming back normal, last one done in 2017.

They have not got to the bottom of the condition we have. The strange thing is, I have had very odd symptoms which I am really worried about. I have had speech pronunciation issues since 2015, odd feelings in my throat which I put down to nerve damage, also ice cold feelings in throat. I mentioned to the professor in 2017 about my speech issues, he dismissed me saying there was nothing wrong with my speech. I continue to have speech issues, which are slightly worse. However, I am now having problems with swallowing, it came on after coughing and coughing when abroad, it seems I can swallow, but feels like things are stuck in my throat, my chest and back and throat feel uncomfortable. I mentioned this to my GP along with all the twitches I get, I mentioned ALS, he didn't seem to dismiss it. I don't have any weakness anywhere else. Since I first got symptoms in 2012, the weakness only seems to be in throat. My question is this presentation anything like you would see in ALS?

Many thanks for your time , best regards

 

[KarenNWendyn]

It really does not sound like ALS. The speech issues that come on in ALS result from weakness of the tongue and soft palate. The initial symptom is typically slurred speech that others notice, and it sounds as if you are drunk. The tongue and throat don’t feel funny or have any odd sensations. Discomfort in the chest and back also points away from ALS.

Peripheral neuropathy has nothing to do with ALS. Remember, ALS is a disease affecting the brain and spinal cord. Also, symptoms of burning pain, numbness, stabbing pain are sensory. ALS affects motor neurons and does not produce these sensory symptoms.

Since you’re concerned about your speech and swallowing, I would recommend seeing an ENT physician.

 

[Louise1980]

Hi Karen, Thank you for taking the time to respond. I have had the slurred speech for some time now, so I expect if it was related to ASL it should be a lot worse by now. Sorry for wasting your time , I am quite anxious at the moment, my mum died suddenly which has made my anxiety worse. thank you again for responding, it is very kind of you.

 

[Louise1980]

Dear All, I am so sorry to bother you all again, this will be my last post and I will go away! As I explained in my first post I have an idiopathic neurologic condition, it appears to be getting worse. It seems now to really affect my autonomic system. I have never had any answers. Its probably a stupid question, but in respect of speech, which I have been having issues with for the past 4 years. In your opinion, if this was something to do with bulber ALS, would this have been picked up by now by a neurologist in a neuro exam? Would it have normally progressed by now and be very obvious? The last neuro exam i had was in 2017 by a professor in London. I saw my regular neuro in February but no exam. It appears to be consonants I have issues with. The speech isn't slow, just I go to say a word and get stuck half way through. It hadn't really bothered me too much before, but because i now have issues with my swallowing, im becoming more concerned. Again, I am sorry, I don't want to insult anyone on here, i'm just a little anxious and frustrated at not knowing whats happening. Many thanks again for your time.

 

[Nikki J]

In my opinion yes it would be obvious to the neuro and yes it would have progressed -a lot-

You saw a neuro in February but no exam? Unless you sat silently during the meeting s/he would be assessing your speech automatically as well as your overall appearance and movements

 

[Louise1980]

Hi Nikki, Thanks for the reply. My neuro doesn't normally do exams in the follow up appointments. I didn't sit there quietly, but only saw him for about 10 minutes. The speech thing can be fine sometimes in conversation, then it can become jittery, where I can't pronounce certain sounds. It depends on how long i'm talking for. I mentioned it to the professor I saw in London, he was quite ignorant and said nothing wrong with your speech. The neurological exam done by him came back normal. I just would have thought after 4 years it would be quite obvious if it was linked to anything that but I wasn't sure if there was a more slower progressive type.

 

[affected]

My husband was diagnosed by the time he had walked in, sat down and replied to the greeting by the doctor. Of course history was then taken, examination performed and tests done, but if you have ALS, those who know what it is know. If they say they don't see, feel or hear problems, they know what they are talking about.
Please believe the answers you are being given, we won't disagree with doctors that are examining you whether you realise or not.
I truly hope you find some peace, it sounds like after 4 years you are still able to function so maybe you need to let things go just a little. Certainly we can't do anything further.