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ophtahlmoplegia
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ophtahlmoplegia

my daughter has a rare genetic syndrome that affects her eyes..eg...if u stuck a pin in her eyeball she would not feel it..it is paralysis in her eyes has anybody heard of this..Dr santos?
4 Comments Post a Comment
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Avatar_dr_f_tn
Hi,
How is your daughter? Can you elaborate on her diagnosis? Ophthalmoplegia or  paralysis of the extraocular muscles that control the movements of the eye can indeed be attributed to congenital abnormalities as well as trauma, complications of viral infections, or disorders that affect the nervous system.  Treatment, however, is usually  directed at correcting any underlying disorders. It is best that further evaluation be done to determine if this symptom is associated with her present syndrome or not. Take care and regards.
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Avatar_f_tn
hi..i see you already come across another post as my daughter has centronuclear myopathy...she has goldberg and shprintzen syndrome..22q11.2..with many other complications...and with all due respect..i know you will just say what you have to or what you can do...
my daughters condition is so rare..no doctor gets on side with me..
i lost my 4 yr old daughter in 1996 through complications with this syndrome..pulmonary hypertension..hirshbrungs disease(which was found in her post mortem)although she suffered horrifically with constipation...i could go on..but no doctor has or will committ....and i understand that,
well i dont really..but its just so rare no doctor will put up the fight for it....not just saying this..my daughter would of been 20 two days ago...so its been a long time of searching for me....and i still will keep on.....
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Avatar_dr_f_tn
Hi,
How are you? I'm sorry to hear what happened with your daughter and for misinterpreting your post as the present. I was able to read your other post after I replied to this thread. I know how hard and frustrating it is not knowing and understanding this rare condition, especially if our children becomes involved.  Indeed additional research is needed but with very limited cases, it is very difficult at present. However, I am also hopeful that like many other rare conditions, this too will be unlocked. The pubmed and NIH studies are good places to start and you can also try to get in touch with the doctors or authors involved in the studies.  In my part I will also look out for new studies regarding this also. Take care always. Warm regards.
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Avatar_f_tn
Hi
Im ok...my daughter is just fine too...thankyou for your response..i do have to say i have gone down a million avenues already...but thankyou anyway
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