Brain Features Distinguishing Congenital Disorders of Glycosylation

Congenital muscular dystrophies associated with glycosylation defects often impact not only neuromuscular function but may also profoundly affect brain construction and cognitive development. The mutations in congenital disorders glycosylation (CDG) related genes that are associated with muscular dystrophy, for which at least 19 are currently recognized, can also produce distinctive patterns of brain malformation. The spectrum of brain phenotypes and pathogenic mechanisms in these metabolic disorders will be discussed.