Neurologist assumes MND with clean EMG (mum's diagnosis)

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Debevs

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Hi all,

I really hope I'm posting in the right place and I'd be so grateful for any advice.

My mum is being investigated for Motor Neurones Disease (assumed by neurologist) having experienced progressive weakness on one side, atrophy, fasciculations. Symptoms onset last year. Crucially, her sibling died of ALS. Other than that no other family history. One of her parents still alive in 90s, the other died aged 86.

Blood tests showed muscle damage and the Neurologist has said he "assumes" MND based on physical examination (demonstrable weakness, visible atrophy and twitching), but a recent EMG has just come back "clear" so won't confirm a diagnosis. We've been told we must wait for three months before redoing it to see if it's changed. It feels so hard to remain in limbo without a formal diagnosis so not able to look into e.g. clinical trials but being told by doctors to expect the worst.

Does anyone have any advice or experience of this? I'm not even sure if we are asking the right questions at the moment. The fear of FALS is also playing on my mind, although my primary worry is for her right now.

So grateful for any insights.
 

Nikki J

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Hi
I am sorry you are in this situation. Where is she being seen? What kind of neurologist? General? Are they at a University? What you are being told sounds right and she probably would not get into any trial even if they decided to call it ALS. That is because the trial criteria almost always call for El Escorial criteria which she does not meet. 3 months is the shortest interval I have seen for follow up emgs.

two things I would try to get for her. A referral to the MND center at Kings. Professor Al Chalabi is the director and is very involved in genetics . He is also extraordinarily kind.

the other thing is genetic testing. Given one relative affected this is possibly FALS How easy that will be without a diagnosis I don’t know. For asymptomatic relatives in a known FALS family with a documented gene in the UK there is counseling and then a wait of a month before testing. I am not sure what would happen in this situation though. C9orf72 is the common FALS mutation here and in the UK and likely where they would start. Kings could help you with this

I have a friend who is documented c9 who has abnormal but not diagnostic emgs as well as symptoms. They are doing 6 month follow up but even with the documented mutation and not normal emgs they won’t give a diagnosis
 

Debevs

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Thank you so much for this kind reply and the helpful advice. She's being seen at the Walton in Liverpool. (I live in London, which feels frustratingly far away in a pandemic). I will pass on that advice about a referral to King's and the doctor you mentioned.

Doctors have actually already offered genetic testing which she plans to have. I suppose the family history is expediting things for us a bit. Her sibling who died of ALS was also given this test (oddly, as no previous other family history) and they found no genetic cause. However that was about ten years ago now and I think before C9orf72 was identified. It sounds that this is the likely culprit if there is one.

The FALS risk is terrifying but I suppose worrying about it won't change the outcome. For myself, I don't think I'll want the test. But I suppose knowing if there's an underlying genetic risk allows for informed decision making.

I am so sorry to hear if the situation your friend us in - how frustrating for her and her loved ones. I hope she gets some certainty soon.

Thank you again.
 

Nikki J

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If she is at the Walton center then she is in good hands and I think should stay there. I was going by your location

c9 was discovered in late 2011 and testing did not become available until the next spring.

it sounds like your mother is getting the proper care. If she does have c9 I encourage you to look into participating in research which you can do without knowing your own status. We are getting closer to treatment for genetic mutations and they plan once it exists to try it as a preventive measure. Results from carrier studies will speed that outcome
 

KimT

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Mayo tested me every three months (three EMGs) for a probable diagnosis. I had the 4th one there when I had trouble swallowing. Johns Hopkins did one on a second opinion. Hopkins also did genetic testing and never charged me. I have an unusual history of many autoimmune diseases and one grandfather died at 42 with polio-type symptoms so that was enough, in their opinion, to warrant genetic testing. I was also tested genetically for rare diseases before my diagnosis. That was also done free since I donated some blood and served as a lab rat for doctors learning how to do EMGs.

I wanted to make sure it wasn’t genetic since my brother has a form of dementia and had two adult daughters, grands and great grands.
D great grands.
 
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