pediatrics
Myotonic Dystrophy
Congenital myotonic dystrophy
Occasionally, myotonic dystrophy is present at birth in children of mothers and, rarely, fathers with DM1 mutations. Offspring may have a severe form of myotonia referred to as congenital myotonic dystrophy. This form is characterized by severe hypotonia (floppy infant), feeding and respiratory difficulties, skeletal deformities, facial weakness, and delayed psychomotor development. Up to 40% of infants do not survive, usually because of respiratory failure and perhaps Overview of Cardiomyopathies . Up to 60% of survivors have Congenital myotonic dystrophy should not be confused with Myotonia Congenita , a separate disorder. 