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Musician

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Oct 28, 2015
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Learn about ALS
Country
PL
State
łódzkie
City
Łodź
Hello everyone,

First, I have to say that I've heard a lot of this terrible disease year ago, on account of Ice Bucket Challenge, and I have some people in my family suffering from other neurodegenerative diseases. That's being said I cannot stress how much I respect your strength and patience to answer all of our questions. All the more I hope you wouldn't mind my bookish English and help me with my question.

This month, after two years of gastroenterological consultations, I've been sent to neurologist in my local clinic on suspicion of having a neurological basis of swallowing issues. They have started exactly two years ago with a sudden onset of severe dysphagia. I woke up not being able to swallow anything at all: soft or solid, dry or liquid. I just couldn't provoke swallowing reflex at all. It took me over a week to re-learn how to swallow soft food and liquids, and since then I can't swallow anything dry or solid without drinking enormous amount of tea or water, as liquids seems the only thing that "activates" my swallowing muscle. It doesn't get better or worse. Few days ago, during my visit with the neurologist I've been diagnosed with hyperreflexia in both knees and atrophy of hypothenar muscles of both hands. Then I was sent for EMG test and MRI of my head on the basis of "bulbar als recognition". I've got sweating and trembling like crazy when I've read the referral, but doctor simply expelled me from the office. Now I can wait several months before my EMG and MRI tests or find a private hospital where I could pay for testing. And I'm... lost. Does it sound like a bulbar als for you? Did you have a similar experience? Is it even possible to "recognize" als during first medical examination? And if... then should I expect it to develop very fast as it's "bulbar"? Please, tell me what you think.
 
What you describe does not really sound like any bulbar onset I have heard of. Not getting progressively worse does not sound like it. And you do not mention speech issues.
Hyperreflexia alone is not necessarily concerning. Unexplained atrophy is however.
I do not know the medical culture of your country. In the US it is necessary to attach a compelling reason for ordering tests and sometimes what is written is not so much what the doctor really thinks will be the eventual disgnosis but rather something it could possibly be that will justify the test.
Your family history may be playing into this. C9orf72 is a genetic cause of ALS ( I am c9) and it can cause other Neurodegenerative illnesses which may have raised the suspicion level but that still does not mean you have it. Are you able to obtain a copy of your medical note from the visit? You might be able to see if there were findings of which you were not told or what the doctor was really thinking. May I ask how old you are?
 
Well, thank you, I indeed do not have any speech problems, though I feel some weakness in my little fingers, and my arms and legs have always been slightly shaking at rest for the last year or so. Unfortunatelly I don't have any copy of my medical note, though I remember that the doctor said he doesn't expect to find anything in MRI and that I should take EMG first. I hope you're right about the reason for ordering tests. By now I'm 30, and extremely worried.
 
My husband was bulbar onset ALS and I can say after carefully reading your post that I don't see anything there that sounds at all like ALS. I hope they get to the bottom of it soon for you.
 
Again I do not know your medical culture. Here we are not given or offered medical notes but can request them. In a large group or hospital there will be a medical records department in a small or individual group I would speak to a secretary/ receptionist. Here it is a right although they may charge for the work and for paper. If you do not know if this is possible call and ask. 28 would be exceptionally young for bulbar onset ALS young for any kind except FALS and is even too young for c9 which is supposed to strike no earlier than 35 though I do know a couple of people who were 34

If you can not get records then I would probably try to pay for the EMG if the wait is otherwise months simply because I could not stand waiting. Did he TELL you he thought ALS or did you read it on the forms?
 
Thank you for your comment Tillie, Nikki I've done as you suggested. I took a day off and found a private clinic when they have given me EMG test almost on the spot. They said I have some serious neurogenic changes, lack of feeling response in my legs, advanced muscle atrophy in both hands, and no denervation. The doctor thinks it's something hereditary, maybe "Charcot-Marie-Tooth", though I have brisk patellar reflexes while CMT people don't have it at all... and, hmm... actually no one in my family has it but me, as seems.
 
No denervation is good. CMT is no walk in the park but has various degrees of severity. The actress Julie Newmar has it and I believe she is in her 80s so in a way good news. Best of luck going forward
 
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