Query about MND/differential diagnosis

[helatruralhome]

Hello,

I'm a very early 30's female who has been having the following issues for around a year (some are newer some are older) but have had some mobility issues since 2009. The neurologist I saw was unable to give a diagnosis without scans, tests, etc (he has requested the tests) but said I have pyramidal signs and the following symptoms :

postural tremor
increased tone in lower limbs
one side facial weakness/diminution of movement
lower limb weakness
increased urinary urgency
pathologically brisk lower limb reflexes
extensor plantars
diminution of light touch at left ankle
diminished joint position sense at ankle
4 beats clonus at ankles
and scissoring gait for the few steps I can walk
motor signs in legs

From what I've read the symptoms seem to indicate I have issues with my upper motor neurons however I'm not a neurologist but considering the wealth of personal experience in this forum I thought I'd post as a way of saying hello I don't think I have ALS but wasn't sure which forum to post in so apologies to the mods if I am in the wrong place!

 

[KimT]

My suggestion is to get the scans, EMG, and any bloodwork your doctor recommends. I don't think anyone in any forum can answer your questions, especially because you haven't done any testing. Work with your doctor to find answers.

Best wishes.

 

[helatruralhome]

Thanks for the response, Kim- He hasn't requested an EMG- just lots of blood tests, a full MRI of my head and spine and a lumbar puncture...

 

[ShiftKicker]

Sounds like he's on the right track and trying to rule out the viral/autoimmune causes of spasticity. With the sensory issues, it points away from MND- as with the tremor and urinary urgency, which are not usually considered a common or identifying sign of MND either.

Has the doctor asked you about movement disorders in other members of your family- are there any? Are you seeing a neuromuscular specialist, or is this a general neurologist? I'm guessing things are moving relatively slowly getting to see a specialist/get scans, given you're in the UK- unfortunately, this period of time of waiting for answers is difficult. When you see your doctor next, ask them what is/has being ruled out, and what is on their differential list if you can.


best wishes

 

[helatruralhome]

Hi- the neurologist I saw specialises in movement disorders. He did ask and as far as I know there are no neurological issues in my family. He said he thinks I have several things wrong rather than just one condition but without any tests he was understandably not able to give a diagnosis.

I won't be seeing him again unfortunately as it was a one-time consultation my parents paid for privately due to me already waiting 18 months to see a neurologist on the NHS with no appointment in sight and we can't afford to see him again.

He has written to my GP to request the tests but my GP doesn't see any urgency despite me now needing to use a wheelchair, having a stairlift installed in my home and being unable to do a lot of things I used to love such as cooking, triathlon, running, cycling, etc. I have also had to go from a good full-time career to a part-time lesser paid role so it has had a financial impact too what with the adaptations and the job change. It is incredibly frustrating!