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Dr. Frank
Dr. Frank, Board Certified Physician
Category: Neurology
Satisfied Customers: 8999
Experience:  Board certified general Adult Neurologist, with experience in experimental neuroimaging and neurodiagnostics.
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I have a undiagnosed congenital myopathy and am trying to

Customer Question

I have a undiagnosed congenital myopathy and am trying to find out more about my congenital and also if there are any recommendations for treatment even just to maintain or slightly sengthern my abilities I am 25, business owner, able to walk 10-50 metres with bad gait hands in pockets to support oneself while walking, breathing lung cap is not too good I get exhausted easily recently and have higher then nornal heart rate if not on heart pills.
Submitted: 7 months ago.
Category: Neurology
Customer: replied 7 months ago.
Had biopsy of leg at age 3, pneumonia at age 11 coma nearly died since then using bipap at night, another biopsy about 6 years ago both didnt answer any questions they are still not sure of the exaxt diagnosis only that they have called it congenital myopathy,
Customer: replied 7 months ago.
Also to note I had a sister that died before I was born at age 11 pneumonia she had same condition I was born 1990
Customer: replied 7 months ago.
She died in 1987
Expert:  vakularen replied 7 months ago.

Hello,I am Dr. Atren and i will help with your query.Have you had a muscle biopsy and genetic studies done to pinpoint the problem?You need to see a tertiary care centre/university hospital where you will be thoroughly examined and assessed for your problem.i am sure your PCP can guide you to the nearest such centre.

Expert:  Dr. Frank replied 7 months ago.
Hello. Do you have her muscle biopsy report?
Expert:  Dr. Frank replied 7 months ago.
You need to try and determine everyone in your family that could be effected. The most likely disorder is Beckers but there are many possibilities. Please get back to me to discuss this further. You could get a dystrophin assay and a CK/ aldolase blood evaluation but the genetics is needed Is this autosomal dominant or sex linked?
Expert:  Dr. Frank replied 7 months ago.
The records are important as the muscle biopsy would show indirect evidence of muscle disease and exclude neuropathic conditions.