Steinert neonatal: un caso inesperado

Title: Neonatal Steinert’s disease: an unexpected case Congenital myotonic dystrophy is caused by a mutation involving an expansion of the CTG trinucleotide repeat on chromosome 19q13.3. During the neonatal period, it presents with hypotonia, overall despondency, respiratory problems and failure to thrive. The mother of the affected child usually has myotonic dystrophy also, even if she does not manifest overt symptoms and signs. Children who survive the neonatal period often show improvement in muscle function but, later in life, develop myotonic dystrophy and progressive myopathy.