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Hello. I'm Dr. Phil, licensed and practicing internist. Excellent service is my goal.
please enter chat
Hi I'm Dr. Phil
Can I ask your first name?
Hello my name is Christine
Nice to meet you
I'm very sorry about your sister
Nice meeting you too
Do we know what her congenital disease is?
Unfortunately, no name/diagnosis was made. Doctors did not understand at that time
what were the symptoms?
She was not able to swallow, nor open the mouth correctly
okay so muscle weakness
has she had an EMG?
Her mouth was paralysed
She then grew up with balance issues
okay has she had an EMG?
it is where they put the pins in the arms and legs and measure nerve and muscle function
No I don't think she had this
okay and the MRI was of the brain?
She is treated in France
Brain but also cervical and spinal
She had 3 times
Nothing was detected
Her feet are valgus equine now
She cannot walk any longer
okay so we can say the nerves in the brain and spinal cord are fine but that doesn't mean it is not neurological. It could be a nerve disorder outside of the central system now
It could also be a form of muscular dystrophy
has she seen a neurologist
Yes, 2 of them and both are clueless
has she been to a large academic hospital?
The consultation in Paris was with a neurologist with good reputation
I think she absolutely needs an EMG
And a nerve/muscle biopsy
I would try to find a specialist is muscular disorders/muscular dystrophy
Could it be an evolution linked to her congenital disorder?
Which would resurface at menauposal
things like SMA (spinal muscular atrophy) which is a type of muscular dystrophy remains stable for many years
Why are the drugs (baclofene and dandrium) not effective?
That I'm not 100% sure
perhaps they are not hitting the right target
Do you think the fact she cannot urine properly now is linked?
yes, I do.
That is either the disorder or the medicine causing that
Since this degradation is fast moving, almost week on week, is there any hope to stop the evolution of the disease
That I am less hopeful of
these progressive conditions are very tough to stop
Is there any treatment for SMA?
no just treating the symptoms
Can it stabilize at some point?
yes, it can
there is no way to predict though
sometimes they do stop or slow
What kind of specialist should she see?
I would try to find a neuromuscular disorders clinic or specialist
Did I do excellent work for you today?
Not sure how to find such specialty in France, but will try
Yes, thank you very much
It might take a little research on the computer
Would you mind rating positive for me before leaving?
I will definitively. Thanks a lot
and good luck