Over the last year there has been remarkable success in finding subtypes of this rare genetic disorder. My son is one of several who have had their specific genetic component identified. For some families this means understanding the disorder and how it will impact their family, for others it is more hope toward keeping their children as healthy as can be despite their diagnosis.
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Congenital Disorders of Glycosylation (CDG), formerly called carbohydrate-deficient glycoprotein syndrome,are a group of inherited disorders that affect a process called glycosylation.
Some of the effects of this disorder are:
hypotonia (low muscle tone)
failure to thrive (slow…Read More