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Arran

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Hi everyone, I hoping someone can help me,with advising on a super als/mnd specialist!

I live in Melbourne Australia, and I’ve been to quite a few neurologists, but I can’t seem to find anyone one with the title neuromuscular specialist for als/mnd

The simple fact is I’ve been having concerning symptoms for 12 months, being progressive! Involving fasiculations, weakness and atrophy!

Frankly I’m sick of talking about them! So please if anyone can help me, it would be much appreciated
 

KarenNWendyn

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If you’ve seen “quite a few neurologists”, what did they tell you about your exam and possible diagnoses? Did they confirm the presence of atrophy and find weakness on exam?
 

Arran

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Hi Karen, no they haven’t said yes to either of those! But there version of weakness and atrophy.

I’m not looking for the average neurologist to perform there 100 year old physical examination! I’m after someone who looks in more detail

From what I read online Australia doesn’t seem to have very many experts! My guess is the small population! Therefore they just don’t see the level of paitents, that say the US would!

Thanks for the replies
 

Arran

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I have chronic reinnervation in the muscles of the back of the hand! Recorded fasiculations in my rhomboid on the same side! I’ve had every blood test and full brain and spine MRI Kennedy’s test basically everything else has been excluded! The back of the left hand is thin and cramps upon minor use! My left leg fatigues after walking around the supermarket! 12 months ago I was working 5-6 days a week and gym 4 days, now I struggle with a full days work!

I’m desperate for answers! I understand there are many people who come here paranoid for silly things! I’m not one! I’m sick and tired of even the specialists telling me als is rare at my age 35, that’s just not true there are stories after stories of people my age getting! Apologies for venting, I’m just sick of hearing that unless I can’t walk or lift my arm above my head or can’t talk properly then I don’t have it! There is nothing out there explaining the lead up to this stage!
 

Nikki J

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Tillie kindly gave you a local resource as you requested . After you have seen them please report back what they say
 

Arran

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Thank you for your reply Nikki, and of course to Tillie for her recommendation! I’ve actually seen someone who worked there for ten years! I think forcing the diagnosis is impossible!
 

KarenNWendyn

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It’s reasonable to see a neuromuscular disease specialist. It may not be MND/ALS, but hopefully you’ll get some answers. Best of luck.
 

Arran

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I have read a recant thread about the c9 gene! My grandma died from an illness that has really long name, I can’t remember it but it was neurological, long story short there is conflicting information in the family that it very well may have been some type of mnd! I’ve never been able to get a straight answer! My question is the genetic testing for the c9gene the same process as the genie testing for Kennedy’s disease, where it takes time for the results ? My question is more for you Nikki as you seem to know a lot about it! Thanks in advance
 

Arran

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Thank you Karen for your reply
 

Nikki J

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C9 testing here takes 2-4 weeks for results. It is autosomal dominant meaning assuming ( very large assumption given your comments about your gm) that your gm was a carrier your relevant parent would had to inherit it and pass it to you but not manifest disease before you. That is unlikely as is a presentation that began even before 35. 35 is considered very young for c9.

Your grandmother apparently had something other than ALS. Most neurologic diseases have nothing to do with c9 and most c9 people have multiple affected relatives. I am the 6 th in my family in my lifetime.

I suggest again make an appointment where Tillie suggests and come back after to tell us
 

Arran

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Thanks again Nikki, I do understand it is a far fetched assumption, I just made the connection with the physical activity being a potential trigger! I’ve always felt like my symptoms all started about 2 years after I began to engage in very extensive exiersie, it almost felt like a trigger! I really appreciate the time taken to reply and answer my questions! I hope my earlier comment of the other post, didn’t upset you, I just felt like I could really help them!
 

Nikki J

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The c9 exercise thing is not a couple of years but more a lifelong habit. And preliminary and c9 specific.
 

Arran

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Hi, I wasn’t sure if I need to start a new thread or just ask a new question on this one.

I was wanting to know if anyone knows much about reinnervation and denervation! My last EMG showed chronic reinnervation in the APB ( the muscle between my for finger and thumb) which is also smaller than it used to be.

Can anyone shed light on why it would show reinnervation and not denervation? Or does the reinnervation hide the denervation from being visiable on the EMG

I have been having trouble with fine control of that hand for about 5 or so months, but as my specialist didn’t perform the EMG her self! It was another neuro that did it, and he didn’t seem to seem it was of any concern! I have an appointment with the specialist in about 3 weeks
 

Atsugi

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Arran, to answer your first question: Please stay in this thread.

Also, it is normal for one person to perform the EMG and another person to give you the results.



Three very smart and experienced people have considered your words and they all agreed that your best course of action is to see the specialist and let us know how it went afterward.

There are a couple hundred people on the site right now. We are trying to help as many people as possible as best as possible. And remember, this is a 24-hour site, serving people around all the time zones of the world. Plus, two of the three people answered you actually have ALS, themselves, which makes it difficult for them to work this board.



Please take our advice. We have smart people, but we can't examine you or see your chart. As you rejected the results given by the doctors who saw you, I rather suspect you'll reject our answers, too. So we're leaving you today with sound advice--see the specialists before you return.


Thanks
 
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