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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Is Myotubular Myopathy?

I am an early intervention provider. I just met a little boy with myotubular myopathy. He cannot speak, sit up, crawl, lift his own head or arms/legs. I am assigned to be his teacher. I would like to know more about the disease, and how best to interact with him.
Fri, 26 Mar 2021
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General & Family Physician 's  Response
Hi,

Myotubular myopathy is a genetic disorder and is seen commonly among males more due to X linked transmission from usually a carrier mother. It's a disorder in which patient suffers from severe muscle weakness and low tone of muscles. It affects skeletal muscles which controls the movements of different parts of our body. Affected person will be having difficulty in walking ,sitting, eye movements, swallowing difficulties and sometimes even breathing.

Lot of patients need feeding support as they have difficulty in swallowing and may need tube feeding. You need to be careful about feeding so as to avoid aspiration of food into lungs. You also need to support him in all daily routine physical activities. He may have difficulties in eye movements also.

You need to take care of his muscular strength and get minor physical activities so as to increase the muscle strength but you should not over exert as muscles are weak and overloading would harm him. You also need to keep an eye on his breathing and if he gets breathing problem then you should get him into mechanical ventilation which would require help from a specialist. You have to interact with him very patiently and support him in all the aspects mentioned above.

Take care. Hope I have answered your question. Let me know if I can assist you further.

Regards,
Dr. Anoop Kumar, General & Family Physician
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What Is Myotubular Myopathy?

Hi, Myotubular myopathy is a genetic disorder and is seen commonly among males more due to X linked transmission from usually a carrier mother. It s a disorder in which patient suffers from severe muscle weakness and low tone of muscles. It affects skeletal muscles which controls the movements of different parts of our body. Affected person will be having difficulty in walking ,sitting, eye movements, swallowing difficulties and sometimes even breathing. Lot of patients need feeding support as they have difficulty in swallowing and may need tube feeding. You need to be careful about feeding so as to avoid aspiration of food into lungs. You also need to support him in all daily routine physical activities. He may have difficulties in eye movements also. You need to take care of his muscular strength and get minor physical activities so as to increase the muscle strength but you should not over exert as muscles are weak and overloading would harm him. You also need to keep an eye on his breathing and if he gets breathing problem then you should get him into mechanical ventilation which would require help from a specialist. You have to interact with him very patiently and support him in all the aspects mentioned above. Take care. Hope I have answered your question. Let me know if I can assist you further. Regards, Dr. Anoop Kumar, General & Family Physician