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mummy24

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Hi all. I am a young female who has been having on going neuro problems which now seem to be getting worse. I presented to my neurologist a few years back with spastic parapasesis. They were concerned as I was told my neuro exam was very abnormal. I have spasticity and weakness, muscle wasting in both my lower legs. My feet have contractures from the spasticity (claw toes and feet turning in). Have hyper reflexes. I can't do the tandem walk without falling but can easily walk on toes but not on my heels. I think neuro said I have clonus. There was just a lot of mention of upper motor neuron stuff.

I never thought I had true ALS before tbh... MRI was clear and docs were going along the lines of a genetic condition. But now comprehensive genetic tests have been unable to find a genetic basis on my condition. I have had the full screening including for genes that cause familial ALS.

I had a ncs which showed upper motor neuron damage somewhere (unfortunately do not have any specifics, only remember something about repeater f waves ) I never had the other part were they stick the needle in (Is this the emg ?).

Symptoms are progressing lately and I'm having cramps and finding it hard going upstairs. Also my knees are getting progressively more stiff. A lot of visible twitching in my left thigh. I think my walk is becoming a bit more spastic lately (crouching, legs turning in)

Obviously this can't be normal als but maybe something similar but less severe. Does this sound familiar to any of you??

Unfortunately I am not a good advocate for my own health and have been a bit in denial about my symptoms and therefore i have not been pushy about getting a diagnosis. Should I be having a EMG?

I find it weird how I have the upper motor neuron thing but I also have atrophy in my legs.
 

WendyWooG

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Hi mummy

What have your doctors said they think you have? You have a lot going on and it's obviously affecting your quality of life. It really is worth pushing your doctors for more help through the diagnostic process to try to find out what's going on. It's also worth getting an EMG done even if it's just to give yourself peace of mind. Being young counts in your favour as far as als goes so try not to worry, easier said than done I know.

In the meantime have the doctors given you any assistance for the spasticity and helping you get around? Medication O.T or P.T referral? It's easy to get scared and avoid the investigation because you are worried it's something serious but it could be something very treatable so keep going back to your doctor to get a definitive diagnosis and some help.

Good luck

Wendy
 

Nikki J

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Hi I am sorry to hear you are still having all these issues without being diagnosed.

I definitely agree with Wendy you need to push your doctors. You apparently are in the UK? Have you been to whatever MND center is in your area? What have you been told about PLS or HSP as possibilities?
 

Lkaibel

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If you have not had an EMG, it sounds like you very much need one. There is a diagnostic line in the U.S. that goes Clinical Exam/EMG-NCS/MRI/Labs that it seems pretty much all neurological symptoms go through if they persist. Muscle biopsy and spinal taps sometimes are done too. However, I don't know how it works in the UK, so it's hard to say but I agree push harder for a diagnosis.

Even here if I had not questioned and pushed I think Dx'ing Brian would have taken longer. This is not to say you have ALS, but you need to find out what it is you do have. I am sorry you are going through all of this.
 

mummy24

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Hi all, thank you for your replies:)

To answer your questions....On my first neuro visit Freidrichs ataxia and complicated HSP were both mentioned very quickly. PLS has never been mentioned at all. MS has never been mentioned either.

But now Freidrichs ataxia and any known form of HSP has been ruled out as I had the full gene testing for these disorders. My geneticist advised to come back in five years when they have more tests available....but said at this time they are unable to find any genetic basis for my condition.

I did briefly see a physio and have been doing some stretches in my legs and upper body. But apart from that and the genetic appointment I haven't done anything else to help myself!! I feel pretty stupid as I discharged myself from my neurologists care as I didn't want to believe there was anything wrong with me :( I guess it was my way of dealing with it at the time. But now I have to face it as it's getting worse.

Right, so it seems like I need to go back to my gp and ask to be referred and possibly get a Emg. Even if it is peace of mind to rule out als. I agree I need to be more pushy... I think a bit of denial has stopped me from pushing for answers.
I don't think there are any motor neuron disease centres near me... I'm in a low populated area in north of Scotland :(

Thanks again for your help x
 

Lkaibel

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EMG's are interesting animals. As our neurologist said "They are imperfect in telling us who DOES have ALS, but they are nearly perfect in telling us who does not". If an EMG does not show abnormalities consistent with ALS, you pretty much just plain do not have it. If it does show those types of abnormalities , there is generally still some testing to be done for another cause.

The combination of things you are dealing with and how they have presented honestly sound different to me than ALS, but keep going in your search for answers as you plan to do now. Keep us posted please.
 

mummy24

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Thanks Lenore. I have NOT had an EMG but had a nerve conduction study, I think this is different, am I correct? (all they said about the ncs results was it fitted in with their diagnosis of upper motor neuron damage and something about anterior horn damage and repeat f waves.?!)
 

mummy24

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But yeap I'm very relieved if it doesn't seem to be presenting like Als. To be honest I think my doctors have been puzzled as they have described my presentation as 'unusual'.

I think the fact that all my genetic tests have been negative has now made me think of non genetic causes such as als. It's hard to know what the future holds, I feel too young to be dealing with all these issues.
 

WendyWooG

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Your symptoms and progression don't seem at all typical but be pushy and get a referral to your neurologist to get some help. You could contact the mnd Scotland association for some advice on specialist centres if you need. There is the Euan MacDonald centre which I think is based in Edinburgh but I don't know about other areas of Scotland. You could join the uk mnda forum as I know there are several Scottish members on there. They might be able to give you a bit more local knowledge.



I sincerely hope they find it's something else, good luck and let us know how you get on.

Wendy

Wendy
 

mummy24

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THank you, Wendy :) I very much hope it is something else too. All I have been told all along is that there is 'something going on' but no straight answer.

I'm trying to be pushy now and have just booked an appointment with my gp, With the hope that I can get referred to a specialist centre or at least my other neurologist so he can book me in for an Emg and maybe someone that can help with my contractures etc. Still don't understand why I never had the proper emg in the first place. Back when I had the NCS done I just assumed it was the same as the emg , was totally ignorant! But only recently found out I never even had a Emg!! Been living in blissfull ignorance!!

I guess i am more concerned since from what I remember my ncs showed no neuropathy and only anterior horn damage which I am assuming is my repeat f waves (since found repeat f waves can be als related, but could also be something else.). So all along I have been thinking I have had als ruled out, but I've never even had an emg! Urgh, that sucks.

Still, my progression is too slow , holding on to that.
 

mummy24

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If it wasn't for my latest progression I would still be in denial , damn you neuro symptoms ��

Feel bad for taking up your time with my stupid problems☹All the best to all you lovely people xx
 

mummy24

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Does anyone have feet like mine?

Hi all, posted on als forum and everyone said it doesn't sound like ALS but maybe PLS.

I obviously have something wrong with me and neuro and geneticist originally thought Freidrichs ataxia or a complicated hereditary spastic paraplegia....but...

Had full gene panel testing for these which has been negative. :( kinda wish I just had answers now as having on going problems. Spasticity, hyperreflexia , weakness, contractures, balance problems. Basically what was described as a very abnormal neuro exam with lots of upper motor neuron signs. Lately problems going up stairs, increasing cramping and twitching. Looks like I have atrophy (correct me if I'm wrong). I also strongly suspect the issues are in my hands too.

So, attached photo of my dodgy feet... do any of you diagnosed with PLS have feet like mine? I guess this is caused by spastic muscles although suspect I have atrophy going on, not very apparent in this pic but my lower legs are very thin. Both feet are like this although left is worse.

My feet look like I have Charcot Marie tooth disease but I had nerve condition and they never found any slowing etc. They found repeat f waves which showed anterior horn loss. could be very rare type of CMT maybe...although chance is remote as its rare to to have upper motor neuron stuff with cmt.

Never had emg were they stick needle in... going back to go to request this and some physio perhaps for my contractures.

PLS Has never been mentioned ( I am young.) progression is very slow but worse symptoms when hot /cold and emotionally stressed. Was sure I had HSP but due to nothing showing on my gene panel , now exploring other options.
 

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mummy24

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Re: Does anyone here have feet like mine?

Upper limb symptoms are clumsy hands, dropping things, cramps if I touch cold things, weird arm and wrist postures (noticed by others before I even noticed.) left index finger starting to claw I think.
 

ShiftKicker

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Mod note- Keeping posts all in one place in order to make sure all information is accessible in a single thread.
 

ShiftKicker

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Hello there-

It sounds like your doctors have hit a wall with regards to recognizing some sort of pattern to your symptoms. You are absolutely right to keep going back to ask for further help with your condition. While I'm glad there was no identifiable genetic issue, it does keep things up in the air for you.

There are people who likely have HSP who have none of the known HSP genes nor other family members sharing the same symptoms. There are also people who are younger who likely have PLS. It comes down to either finding a doctor who is experienced in recognizing some sort of pattern in your symptoms, or your progression continuing till it's obvious what you have.

I completely understand and empathise with your experience. I don't know where things stand with regards to claiming disability or getting help with equipment and such- having a diagnosis makes this easier. I understand access to specialists can take a long time in the NHS and may also require travel to a larger centre. You might want to contact the MND society, explain your situation and ask which doctors they might recommend you try to get an appointment with.

Fiona
 
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