Congenital myotonic dystrophy

Abstract

Congenital myotonic dystrophy (CMyD) is a relatively rare form of myotonic dystrophy with the onset of symptoms in neonatal age or in utero; a characteristic clinical picture and a typical maternal transmission is present in almost all severe affected cases. The major clinical features of CMyD are hypotoma, weakness, facial diplegia, respiratory distress, impaired swallowing and sucking. The diagnostic assessment of CMyD is based on mother's examination that often shows mild facial weakness and clinical myotonia that can be showed or confirmed by EMG. A sure diagnosis is possible by the detection of an unstable DNA sequence and greatly CTG triplet repeat on molecular studies. This specific molecular test now offers the possibility for both prenatal and presymptomatic diagnosis. In this report major and minor clinical features, diagnostic assessment and management of the CMyD are shortly summarized.