Abstract
Abstract The myotonic dystrophies can be considered as clinical syndromes that include subtypes designated as myotonic dystrophy type 1 (DMI) and myotonic dystrophy type 2 (DM2), each of which is determined by a distinct genetic locus (Meola 2000). It is possible that further specific subtypes will be identified, and these will be designated DM3, etc. This nomenclature was recommended by an international panel (Ashizawa 2000) and is followed in this chapter. Alternatively, some experts reserve the term ‘myotonic dystrophy’ (myotonia atrophica, dystrophia myotonica, myotonic muscular dystrophy) for the monogenic disorder, in which a characteristic pattern of dystrophic muscle disease is accompanied by myotonia and by specific abnormalities of other systems, originally described by Steinert, and prefer a different designation for variants that are clinically and genetically distinct, such as proximal myotonic myopathy (PROMM).
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