Undiagnosed motor neurone/muscle disorder

[PaulaF]

Thanks for your replies.
Weight plummeted with illness, but has been slowly recovering with supplements.
The GP was sent a letter, but not the test results themselves. For some reason, they are ignoring repeated requests for the actual reports of some of the results.
Lung function tests are either average (100% normal) or borderline low (77%), not too bad at all, but keep getting coughing fits that they say might be due to something unrelated.

[PaulaF]

Full EMG results finally received!

Can see why they might not have wanted to disclose them, as they show the first EMG test (negative for MND signs) was only performed by a trainee.

Normal nerve conduction and no fasciculations, BUT reduced activation of neurons in all but one muscle, raised polyphasia in most muscles, and raised amplitudes (1+ or 2+) and durations in all muscles.

They suggest an atypical MND, possibly only in the spinal cord.

Has anyone else had similar results?

[PaulaF]

Another curious update ...
A biopsy has revealed wastage and abnormality to only type 2 muscle fibres, with type 1 fibres unaffected.
Not sure why the MND would only damage one type of muscle fibre. They don't seem to know either, saying everyone is different!

[Ellie]

PaulaF I know you are negative for SMA, but was full genetic testing mentioned recently? If not, I'd push for it at this stage - it could/should be of benefit not only to you, but also to the doctors. xx

[PaulaF]

I've asked, but don't want to irritate her more by keeping pushing for things.
Just wondered if anyone else had the same.

[PaulaF]

The difference between the type 1 and type 2 fibres was picked up on a biopsy. The type 2 fibres (for power or fast movement) had shrivelled and clumped, but the type 1 fibres (for holding posture) were normal,
The EMG showed denervation in every muscle, but this doesn't seem to have affected the type 1 fibres - not sure why.

[Ellie]

I see, thanks.

[Aidan in Shrewsbury]

Thanks for your replies.
Weight plummeted with illness, but has been slowly recovering with supplements.
The GP was sent a letter, but not the test results themselves. For some reason, they are ignoring repeated requests for the actual reports of some of the results.
Lung function tests are either average (100% normal) or borderline low (77%), not too bad at all, but keep getting coughing fits that they say might be due to something unrelated.

My weight went from 13 stone to 11 stone in the space of a few months. Think it was partially due to a stress and a bit of depression from the diagnosis. Trying to stabilise at this weight by eating stuff like M&S Swiss rolls. Find eating more difficult because of bad hands which does not help.

[PaulaF]

In my case, it's mainly loss of appetite, plus some difficulty swallowing. I think it's important to keep weight on if possible, as its associated with a better prognosis.

[Aidan in Shrewsbury]

In my case, it's mainly loss of appetite, plus some difficulty swallowing. I think it's important to keep weight on if possible, as its associated with a better prognosis.

Agree but I too often have a poor appetite and simply don’t want to eat a big meal. Try to make up for it by grazing between meals but don’t even want to do that much of the time. On the plus side 11 stone is probably a good weight for me and I can get into some clothes I couldn’t before though I can’t be bothered a lot of the time. MND is a good vanity suppressant.

[PaulaF]

A new clue in diagnosis for me - an asymptomatic family member has been confirmed with an intermediate c9orf72 expansion.
Still slightly odd if this is the culprit though, as I read that c9orf72 effects are generally detectable on MRI scans, and scans in my case have come out as wholly 'normal'.

[Ellie]

... an asymptomatic family member has been confirmed with an intermediate c9orf72 expansion.

Given that the person is asymptomatic (for ALS, I presume) there must have been a valid reason to run genetic testing - does that also imply you will be/have been tested for C9 too?

Still slightly odd if this is the culprit though, as I read that c9orf72 effects are generally detectable on MRI scans, and scans in my case have come out as wholly 'normal'.

Not necessarily. I have taken part in imaging research and have always been scanned in a 3T MRI scanner, which is 2x as powerful as a standard scanner. Changes to the brain are visible in these scanners which are not seen in a standard scanner. (I am C9- but there were both C9+ and control subjects in the study too) IDK if that's at all helpful or if what you read related to research undertaken in a 3T scanner.

It's not really a diagnostic tool as there usually isn't that much damage done until the disease progresses.

[PaulaF]

Given that the person is asymptomatic (for ALS, I presume) there must have been a valid reason to run genetic testing - does that also imply you will be/have been tested for C9 too?

The C9 result was an unexpected by-product of an ancestry test! More pointedly still, it was the same on both alleles (inherited from both parents). We are now testing more widely.

Not necessarily. I have taken part in imaging research and have always been scanned in a 3T MRI scanner, which is 2x as powerful as a standard scanner. Changes to the brain are visible in these scanners which are not seen in a standard scanner. (I am C9- but there were both C9+ and control subjects in the study too) IDK if that's at all helpful or if what you read related to research undertaken in a 3T scanner.

It's not really a diagnostic tool as there usually isn't that much damage done until the disease progresses.

Thanks for this information, Ellie.

This is a curious condition about which they are discovering new things quite rapidly - a cause for optimism, I think.

In some ways, it might be better termed C9 repeat expansion disease, as it can sometimes affect the frontal lobes of the brain and not any motor neurons at all, and vice versa. So the effects can be localised, which might explain why (especially under-powered) MRI doesn't always pick it up.

A paper on C9orf72 from Querin (just published) lists lots of changes showing up on MRI and states that these are already identifiable up to 20 years before symptom onset. Without a 3T scanner, I suppose these might not be detectable in my case, which seems pretty much exclusively lower MN to date.

The most striking recent data about C9orf72-ALS (unlike other types of MND) is that it is associated with sharply elevated levels CRP and tumour necrosis factor alpha, which are usually only found in auto-immune diseases or infections. Hopefully this kind of information will help research into treatments for the various types of MND.

[Ellie]

The C9 result was an unexpected by-product of an ancestry test!

Blimey, that must have been a shocker 😟 That's the thing about these tests, you never know what they'll reveal and the results don't come with counselling...
(I know somebody who found out that his father couldn't be his father from one of those tests - needless to say it caused trouble 😏)

If you are a C9orf72 case, then you know how much has been achieved and learnt from ongoing research.

Best wishes. xx

[Aidan in Shrewsbury]

I also had a genetic test & found out that I’m actually royal and am very close in line to being the king of England.