BackgroundMyotonic Dystrophy type 1 is an autosomal dominant, multisystem disease characterized by muscle weakness and myotonia. Phenotypes include congenital, childhood and classic adult onset. Congenital Myotonic Dystrophy (CDM) is the most severe occurring in neonates, characterized by severe hypotonia, mechanical respiratory failure, oropharyngeal and gastrointestinal (GI) dysmotility. Cognitive impairment and cardiac arrhythmias may develop in childhood. GI dysfunction is a common feature of the disease at all ages however manifestations have not been well characterized in pediatric patients.
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