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Mood: marialou
s mum is worried sick today
About Me: Female, 34, runcorn - United Kingdom, member since Jan 2008
i have a 13 yr old daughter who has a rare syndrome called goldberg and sphrintzen and she has over the yrs had many other problems which may or may not be related.we have just found she has centronuclear myopathy,
Interests: syndromes, myopathy, singing, swimming  
rare syndromes
Oct 10, 2008 12:02AM in the Neurology Community
my daughter has a rare syndrome with so many complications,has anyone heard of 22q11.2 deletion syndrome? ive been searc...
can megacolon lead to hirschbrungs disease?
Oct 08, 2008 01:44PM in the Gastroenterology Community
does anybody know if megacolon can develope into hirschbrungs disease?
AM I THE ONLY ONE
Oct 07, 2008 02:10AM in the Genetics Community
hi rose,my name is lisa,you are definitley not on your own,i too have been searching for answers for my daughter,although...

goldberg and shprintzen syndrome syringomyelia and centronuclear myopathy and ophthamoplegia 


Jun 22, 2008 02:38PM - 1 Comment
My daughter is 14 this august and in the past year and a half she has been diagnosed with a syringomyelia T6-T11 as well as a centronuclear myopathy and also ohthamoplegia...[more]

centronuclear myopathy goldberg and sphrintzen syndrome


Jan 22, 2008 10:10AM
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 lit...[more]
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Rachelgr34
Female
Seattle
Member since Oct 2008
Mood: Rachelgr34 is ...feeling worried that symptoms have returned.
Oct 06
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EmmaJANE21
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EmmaJANE21
Female, 21 years
Sydney - Australia
Member since Sep 2008
Mood: EmmaJANE21 feeling a little sick again
Journal Entry:   "I know i havnt written in awhile, i tried..." [Read]
Oct 06
Just a quick note to say hi and welcome XD
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marialula
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marialula
Female, 37 years
runcorn - United Kingdom
Member since Jun 2008

Female, 37, runcorn - United Kingdom
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