[Direct genotype analysis in congenital myotonic dystrophy with an unusual family anamnesis]

We report a case of congenital myotonic dystrophy (CMD) in which not only the mother but also the paternal family is affected by myotonic dystrophy (DM). Clinical symptoms consisted of poor spontaneous movements, typical facial appearance, respiratory insufficiency attributable to diaphragmatic weakness, feeding difficulties due to impaired gastrointestinal tract motility and poor sucking, joint contractures and thin ribs. She died at 7 month of age, still ventilated, from aspiration pneumonia. By employing molecular genetic methods we were able to show that the affected child was not homozygous for the DM gene.