CONGENITAL MYOTONIC DYSTROPHY IN THE NEONATAL PERIOD – A CASE REPORT

Czech version

Authors: Červenková Barbora ^1,2
Authors‘ workplace: Ústav speciálněpedagogických studií, Pedagogická fakulta Univerzity Palackého v Olomouci ¹; Fakultní nemocnice Brno, Neonatologické oddělení ²
Published in: Listy klinické logopedie 2023; 7(1): 19-26
Category: Main topic
doi: https://doi.org/10.36833/lkl.2023.008

Overview

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.

Keywords:

dysphagia – speech and language therapy – congenital myotonic dystrophy

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