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Have Global Myopathy, Pigment In Eye, Bilateral Hearing Loss. MRI Shows Premature Small Vessel Disease. What Is Wrong?

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Posted on Sun, 10 Jun 2012
Question: I have been told I have global myopathy , my left eye has pigment in and I have bilateral hearing loss. MRI Brain shows signs of premature small vessel disease , EMG normal .I walk with crutches , short distances only . What is wrong ?
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Answered by Dr. Shiva Kumar R (10 hours later)
Hello,
Thanks for the query

Regarding the presence of muscle weakness (global myopathy) with bilateral hearing loss and some amount of swallowing problems,it looks like a herditary form of myopathy like mitochondrial disease and oculopharyngeal muscular dystrophy.

Diagnosis can be confirmed by muscle biopsy and genetic studies.

You may also require serum lactate and pyruvate analysis, CPK(Creatine phosphokinase), LDH(Lactate dehydrogenase) levels in addition to your routine tests. You may also require cardiac evaluation.

This is a very difficult time for you I am sure. The bottom line is that I think you need to talk to Neuromuscular expert and make sure the kind of myopathy you are suffering from.

Thanks again for the query. I hope you found my response to be helpful and informative. If you have any additional concerns I would be happy to address them.

Take care, Bye
Above answer was peer-reviewed by : Dr. Radhika
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Answered by
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Dr. Shiva Kumar R

Neurologist

Practicing since :2001

Answered : 504 Questions

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Have Global Myopathy, Pigment In Eye, Bilateral Hearing Loss. MRI Shows Premature Small Vessel Disease. What Is Wrong?

Hello,
Thanks for the query

Regarding the presence of muscle weakness (global myopathy) with bilateral hearing loss and some amount of swallowing problems,it looks like a herditary form of myopathy like mitochondrial disease and oculopharyngeal muscular dystrophy.

Diagnosis can be confirmed by muscle biopsy and genetic studies.

You may also require serum lactate and pyruvate analysis, CPK(Creatine phosphokinase), LDH(Lactate dehydrogenase) levels in addition to your routine tests. You may also require cardiac evaluation.

This is a very difficult time for you I am sure. The bottom line is that I think you need to talk to Neuromuscular expert and make sure the kind of myopathy you are suffering from.

Thanks again for the query. I hope you found my response to be helpful and informative. If you have any additional concerns I would be happy to address them.

Take care, Bye