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Muscle dystrophy - Online Doctor Chats

Date : 13-Jan-2012
User rating for this question
Very Good Posted in: TMJ
Answered by

General & Family Physician
Practicing since : 2005
Answered : 2381 Questions
User :   Hi,

We have a patient who is 9 years old but is unable to walk but it was not the same from the time of birth, he was able to walk and run, slowly he started limping and now cannot walk at all, slowly now his upper body has also got weak, we have spoken to a lot of doctors and they are giving him medicenes and also physiotherapy but he is only getting worse, his blood tests show that currently his Serum CPK is 6890 units where the normal range is 0 to 171 units. Do you have any solution or treatment for him. Please call at 0000 or email back at YYYY@YYYY

Doctor :   hi
User :   hi
Doctor :   may i know whom i am chatting with?

User :   my name is xxxxxx
User :   hw u doin?
Doctor :   hii
Doctor :  
i am doiong good
Doctor :  
how about u?
User :   gud
User :   thank you
Doctor :  
how are u related to patient?
User :   I am his brother
Doctor :  
ok
Doctor :  
where are u from?
User :   I am from hyderabad, India
Doctor :   ok

Doctor :  
what is ur brother age?
User :   he is 9 years old
Doctor :  
ok
User :   so what is your opinion regarding his condition?
Doctor :  
from how many days he is having this problem?
User :   according to us it started 3 years ago
User :   or we actually noticed it particularly 3 years ago
Doctor :   ok

Doctor :  
before that he was fine?
User :   he was able to walk but lots of doctors have given the opinion that it is there from birth
User :   but never the less he used to walk properly
User :   but for the past one year he is not walking at all
Doctor :  
ok
Doctor :   any other symptoms and signs?

User :   nothing in particular
User :   he feels pretty normal otherwise
Doctor :  
ok
User :   he doesnot have alot of strength in his hands either
Doctor :  
his milestones were normal?
User :   by milestones you mean?
Doctor :   means the age at which he started walking /sitting/talking??

User :   yes absolutely
Doctor :  
whch doctor have u seen?
User :   Padiatrion
Doctor :  
ok
User :   Paeditrician
Doctor :  
which hospital?
User :   Hope Hospital for children, NIIMS
Doctor :  
ok
User :   and a lot more
User :   Dr. Srikanth from Elbit
User :   who was a doctor for nerves
Doctor :  
ok
Doctor :  
what was their diagnosis?
User :   they diagnosed that his serum cpk is high
Doctor :  
ok
User :   the current report shows the Serum CPK is 0000
Doctor :  
nothing else?
User :   no thats about it
User :   so what do you reckon?
Doctor :  
cpk is a marker enzyme which is present in the heart,muscles ..
Doctor :   in this situation ur brothers muscles are becoming weak
Doctor :  
cpk will not tell the reason
Doctor :  
but it will only tell that muscle is getting broken down so the levels are increase
User :   what do you suggest then?
Doctor :   with out examination it is highly impossible to come to a conclusion
Doctor :  
do u have any similar family history in the past?
User :   Well one of the doctor did suggest that it is "Muscular Dystrophy Syndrome."
User :   no we dont
Doctor :   ok

Doctor :  
most of the muscular dystrophy syndromes are geneticlal
Doctor :  
which means they come by birth
Doctor :  
'but in some dystrophies the disabilty will be earlier
Doctor :   but in some disabilities the symptoms will manifest late
Doctor :  
like ur brother
Doctor :  
such cases are very rare
User :   what are the chances of treatment available?
User :   because he is very sharp mentally
Doctor :  
if it is mucular dystrophy syndrome then there is no cure avaiable anywhere in the world
User :   and it looks like the disability is really physical
Doctor :  
even though there are lot of experiments are under trial
Doctor :  
still there is no specifiic treatment
Doctor :   genetical disease are very difficult to treat
User :   but it is not heriditary from maternal or paternal side
Doctor :   even though there is dystrophy gene ..there is no rule that they should get the disease because in some persons the gene will be suppressed
User :   ok, I have just two more questions
Doctor :  
ok
Doctor :  
proceed
User :   firstly whats the best that can be done for him now?
Doctor :   if it is muscular dustrophy syndrome then nothing can be done
Doctor :   there is no cure
Doctor :  
u can try physiotherapy
Doctor :  
they might give some improvement
Doctor :  
but no guarantee
User :   whats the tests that can be done to confirm what exactly is it?
Doctor :   there is no test available also

Doctor :   by recombinant dna technology we should find out which gene is defective
Doctor :  
but it is very expensive
Doctor :  
the diagnosis is purely based on exclusion of iother diseases
User :   what do you predict is going to be his future?
User :   do you think he will get better as time passes by
User :   or otherwise
Doctor :  
there are many types of dystrophies
Doctor :  
we should know what kind it is
Doctor :   by muscle biopsy
Doctor :   but his future is unpredictable and there is not proper treatment

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