Congenital Myotonic Dystrophy in the Neonatal Period -

Abstract

Congenital myotonic dystrophy is the most severe form of myotonic dystrophy type 1 (DM1), an autosomal dominant multisystem disorder. Myotonic dystrophies are primarily degenerative, genetically determined and progressive disorders of skeletal and smooth muscles. Myotonic dystrophy represents multi-organ diseases, and causes diseases of the eyes, heart, endocrine and central (but sometimes peripheral) nervous system. Speech and language therapy for a CDM child is recommended from the moment of their birth, because there is a higher risk of dysphagia. This paper presents the role of a Clinical Speech Therapist in the diagnosis and therapy of a patient during his postpartum hospitalisation in the neonatal unit of intermittent care.