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centronuclear myopathy goldberg and sphrintzen syndrome

Jan 22, 2008 - 3 comments
Tags:

syndromes

,

myopathy

,

muscles

,

Pulmonary

,

hypertension

,

biopsy

,

daughter



goldberg and sphrintzen syndrome is an exceptionally rare syndrome and i have over the years found it hard to get information for my daughter who is 13 yrs old.i had a little girl who died 11 yrs ago who also had the same syndrome but she had heart complications and died of pulmonary hypertension aged 3 yrs and 9 mths. my 13 yr old has just had a muscle biopsy done and its discovered she has centronuclear myopathy and now has to wait to see specialists in that field as well as many other specialists.its very hard to explain whats wrong to my daughter when most doctors cant tell us, has anyone experienced anything like this in the hope it could giv us some insight as to what the future holds for my daughter.

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by yogiyasmine, May 18, 2011
My daughter, aged 12, also had Sphrinzten Goldberg syndrome. I am interested to make contact with you to share information and experience.

Avatar_n_tn
by yogiyasmine, May 18, 2011
I'm sorry, that should have read "HAS". Apologies for typo!

Avatar_f_tn
by lisaob1, Jun 27, 2011
hi only just seen your post,yes,without a doubt would be more than happy to share our experiences.my name is lisa,please contact me,i would only be more than happy to share,hope to hear from you soon xx

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