title: [Congenital myotonic dystrophy in a Neonatal Intensive Care Unit: case series].
abstract: Steinert myotonic dystrophy is a multisystemic disease, autosomal dominant, with a wide spectrum of severity and clinical manifestations. The most severe form is one that manifests in the neonatal period, called congenital myotonic dystrophy. This condition is distinguished by overall hypotonia at birth and respiratory function compromise. Complications are frequent, mainly psychomotor development delay, growth failure, food difficulties and constipation. It is associated with a poor prognosis, with an overall mortality of up to 50% of severely affected children. We present five patients with congenital myotonic dystrophy in order to describe clinical manifestations, diagnosis, treatment and prognosis. Existing data in the literature on psychomotor development, complications and prognosis of survivors with congenital myotonic dystrophy are scarce. In our case studies, we have found significant chronic psychomotor limitations.
authors.affiliation: Unidad de Cuidados Intensivos Neonatales, Centro Hospitalar do Tâmega e Sousa, E. P. E., Unidade Padre Américo.
authors.forename: Sara
authors.initials: S
authors.lastname: Domingues
authors.affiliation: Unidad de Cuidados Intensivos Neonatales, Centro Hospitalar do Tâmega e Sousa, E. P. E., Unidade Padre Américo.
authors.forename: Clara
authors.initials: C
authors.lastname: Alves Pereira
authors.affiliation: Unidad de Cuidados Intensivos Neonatales, Centro Hospitalar do Tâmega e Sousa, E. P. E., Unidade Padre Américo.
authors.forename: Angela
authors.initials: A
authors.lastname: Machado
authors.affiliation: Unidad de Cuidados Intensivos Neonatales, Centro Hospitalar do Tâmega e Sousa, E. P. E., Unidade Padre Américo.
authors.forename: Sandra
authors.initials: S
authors.lastname: Pereira
authors.affiliation: Servicio de Pediatría, Centro Hospitalar do Tâmega e Sousa, E. P. E., Unidade Padre Américo.
authors.forename: Leonilde
authors.initials: L
authors.lastname: Machado
authors.affiliation: Servicio de Neurología, Centro Hospitalar do Tâmega e Sousa, E. P. E., Unidade Padre Américo, Penafiel, Portugal.
authors.forename: Carla
authors.initials: C
authors.lastname: Fraga
authors.affiliation: Unidad de Cuidados Intensivos Neonatales, Centro Hospitalar do Tâmega e Sousa, E. P. E., Unidade Padre Américo.
authors.forename: Abílio
authors.initials: A
authors.lastname: Oliveira
authors.affiliation: Unidad de Cuidados Intensivos Neonatales, Centro Hospitalar do Tâmega e Sousa, E. P. E., Unidade Padre Américo.
authors.forename: Isabel
authors.initials: I
authors.lastname: Vale
authors.affiliation: Unidad de Cuidados Intensivos Neonatales, Centro Hospitalar do Tâmega e Sousa, E. P. E., Unidade Padre Américo.
authors.forename: Ilídio
authors.initials: I
authors.lastname: Quelhas
mesh_terms: D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007363:Intensive Care Units, Neonatal; D008297:Male; D009223:Myotonic Dystrophy / Q000175:diagnosis*; D010641:Phenotype