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Dr. Phil, MD
Dr. Phil, MD, Board Certified Physician
Category: Medical
Satisfied Customers: 56605
Experience:  GP in the United States
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my sister has been diagnosed with sudden spasticity in her legs, leading to severe distort

Resolved Question:

my sister has been diagnosed with sudden spasticity in her legs, leading to severe distortion of her feet and inability to walk. She is treated with baclofene and dandrium and she is now having issues with eliminating urine. MRI said it is not neurologic driven. what kind of doctor/specialist should we seek advice to?
by the way, she was born in 1965 with a congenital disease which no doctor have been able to name. her health has been very good and stable for 47 years, and her condition has just started to deteriorate ( 1 leg, then the second, and no urine issue) over the past 6 months , at an accelerated rhythm. many thanks for any advice
Submitted: 3 years ago.
Category: Medical
Expert:  Dr. Phil, MD replied 3 years ago.

Dr. Phil, MD :

Hello. I'm Dr. Phil, licensed and practicing internist. Excellent service is my goal.

Dr. Phil, MD :

please enter chat

Dr. Phil, MD :

Hi I'm Dr. Phil

Dr. Phil, MD :

Can I ask your first name?

Customer:

Hello my name is Christine

Dr. Phil, MD :

Hi Christine

Dr. Phil, MD :

Nice to meet you

Dr. Phil, MD :

I'm very sorry about your sister

Customer:

Nice meeting you too

Dr. Phil, MD :

Do we know what her congenital disease is?

Customer:

Unfortunately, no name/diagnosis was made. Doctors did not understand at that time

Dr. Phil, MD :

what were the symptoms?

Customer:

She was not able to swallow, nor open the mouth correctly

Dr. Phil, MD :

okay so muscle weakness

Dr. Phil, MD :

has she had an EMG?

Customer:

Her mouth was paralysed

Customer:

She then grew up with balance issues

Dr. Phil, MD :

okay has she had an EMG?

Customer:

EMG ?

Dr. Phil, MD :

]

Dr. Phil, MD :

oops

Dr. Phil, MD :

it is where they put the pins in the arms and legs and measure nerve and muscle function

Customer:

No I don't think she had this

Dr. Phil, MD :

okay and the MRI was of the brain?

Dr. Phil, MD :

correct?

Customer:

She is treated in France

Customer:

Brain but also cervical and spinal

Customer:

She had 3 times

Customer:

Nothing was detected

Customer:

Her feet are valgus equine now

Customer:

She cannot walk any longer

Dr. Phil, MD :

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

Dr. Phil, MD :

It could also be a form of muscular dystrophy

Dr. Phil, MD :

has she seen a neurologist

Dr. Phil, MD :

?

Customer:

Yes, 2 of them and both are clueless

Dr. Phil, MD :

has she been to a large academic hospital?

Customer:

The consultation in Paris was with a neurologist with good reputation

Dr. Phil, MD :

I see.

Dr. Phil, MD :

I think she absolutely needs an EMG

Dr. Phil, MD :

And a nerve/muscle biopsy

Dr. Phil, MD :

I would try to find a specialist is muscular disorders/muscular dystrophy

Customer:

Could it be an evolution linked to her congenital disorder?

Dr. Phil, MD :

absolutely!

Customer:

Which would resurface at menauposal

Dr. Phil, MD :

things like SMA (spinal muscular atrophy) which is a type of muscular dystrophy remains stable for many years

Customer:

Why are the drugs (baclofene and dandrium) not effective?

Dr. Phil, MD :

That I'm not 100% sure

Dr. Phil, MD :

perhaps they are not hitting the right target

Customer:

Do you think the fact she cannot urine properly now is linked?

Dr. Phil, MD :

yes, I do.

Dr. Phil, MD :

That is either the disorder or the medicine causing that

Customer:

Since this degradation is fast moving, almost week on week, is there any hope to stop the evolution of the disease

Dr. Phil, MD :

That I am less hopeful of

Dr. Phil, MD :

these progressive conditions are very tough to stop

Customer:

Is there any treatment for SMA?

Dr. Phil, MD :

no just treating the symptoms

Customer:

Can it stabilize at some point?

Dr. Phil, MD :

yes, it can

Dr. Phil, MD :

there is no way to predict though

Dr. Phil, MD :

sometimes they do stop or slow

Customer:

I understand

Customer:

What kind of specialist should she see?

Customer:

Rheumatologist ?

Dr. Phil, MD :

I would try to find a neuromuscular disorders clinic or specialist

Customer:

Got it

Dr. Phil, MD :

Did I do excellent work for you today?

Customer:

Not sure how to find such specialty in France, but will try

Customer:

Yes, thank you very much

Dr. Phil, MD :

It might take a little research on the computer

Dr. Phil, MD :

Would you mind rating positive for me before leaving?

Customer:

I will definitively. Thanks a lot

Dr. Phil, MD :

thanks :)

Dr. Phil, MD :

and good luck

Customer:

Many thanks

Dr. Phil, MD :

welcome

Dr. Phil, MD and 5 other Medical Specialists are ready to help you
Expert:  Dr. Phil, MD replied 3 years ago.
I appreciate the excellent rating.

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