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rare muscle disease
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rare muscle disease

centronuclear myopathy...has anybody heard of this or MMT1..?
2 Comments Post a Comment
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Avatar_dr_f_tn
Hi,
Centronuclear myopathy is a condition that primarily affects skeletal muscles and may be associated with mutations in the DNM2 gene (for  autosomal dominant pattern) or mutations in the BIN1 gene (for autosomal recessive pattern)  Patients with autosomal dominant centronuclear myopathy may have droopy eyelids(ptosis) and  weakness in the muscles that control eye movement (ophthalmoplegia) --as mentioned in your other post. ( ref: http://ghr.nlm.nih.gov/condition/centronuclear-myopathy)  
Hope this helps. Take care and do keep us posted.
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Avatar_f_tn
hi
firstly thankyou so much for your reply,i have to say it means a lot...
my daughter has ptosis..she also has ophthalmolplegia..and she has also a rare condition in her eyes were she has paralysis..she is so amazing ye know...and i do appreciate that her conditions she has..doctors cant give me answers as there is none..they are so rare..she has sleep apnoea which i know is due to her cnm...she has a syrinx  T6-T11 9mm syrinx which affects her legs..she falls over without warning..her legs just cave..i dont expect any answers off you doctor...just venting i guess..my daughters situation is one of uniqueness...so i thankyou again for your reply
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selmaS
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