G Pelargonio, A Dello Russo, T Sanna, G De Martino, F Bellocci
Myotonic dystrophy (dystrophia myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. DM is a multisystem disease with major cardiac involvement. Core features of myotonic dystrophy are myotonia, muscle weakness, cataract, and cardiac conduction abnormalities. Classical DM (first described by Steinert and called Steinert's disease or DM1) has been identified as an autosomal dominant disorder associated with the presence of an abnormal expansion of a CTG trinucleotide repeat on chromosome 19q13.3 (the DM 1 locus). A similar but less common disorder was later described as proximal myotonic myopathy, caused by alterations on a different gene on chromosome 3q21 (the DM2 locus). This article will mainly focus on DM1. It will provide an insight into the epidemiology and genetic alterations of the disease and provide up-to-date information on postmortem and clinical findings and on diagnostic and therapeutic options in patients presenting cardiac involvement.
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