[Congenital myotonic dystrophy].
Congenital myotonic dystrophy is a distinct entity causing severe hypotonia and other neuromuscular manifestations. The disease is usually inherited from the mother and shows a more severe course than the adult form of dystrophia myotonica. Congenital myotonic dystrophy is associated with increased perinatal mortality. We describe a case with this disorder and discuss the differential diagnosis in relation to other neuromuscular disorders causing hypotonia in early life.
Lundemo
G
G
Klinisk neurofysiologisk laboratorium, Sentralsjukehuset i Rogaland, Stavanger.
Laerdal
A
A
D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009223:Myotonic Dystrophy / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics
Dystrophia myotonica congenita.