(See "Duchenne and Becker muscular dystrophy: Clinical features and diagnosis" and "Emery-Dreifuss muscular dystrophy" and "Limb-girdle muscular dystrophy" and "Oculopharyngeal, distal, and congenital muscular dystrophies".) Other muscular dystrophies are also discussed separately. (See "Myotonic dystrophy: Treatment and prognosis".) The prognosis and management of DM are discussed separately. The genetics, pathophysiology, clinical features, and diagnosis of DM will be reviewed here. One consequence of the multisystemic nature of this disorder is that individuals affected by DM1 or DM2 may first present to internists, cardiologists, ophthalmologists, endocrinologists, and pediatricians (in the case of DM1), before they see a neurologist. Furthermore, there is a severe congenital form of DM1 with marked developmental disability. However, DM is more than simply a muscular dystrophy per se, since affected individuals may show cataracts, cardiac conduction abnormalities, infertility, and insulin resistance. These autosomal dominant conditions are among the most common forms of adult-onset muscular dystrophy. DM2, recognized in 1994 as a milder version of DM1.DM1, for a century known as Steinert disease.© 2000 John Wiley & Sons, Inc.INTRODUCTION - Myotonic dystrophy (DM) is a clinically and genetically heterogeneous disorder. Although the diagnosis may be clinically suspected, it depends on DNA analysis. Genetic linkage analyses show that myotonic dystrophies can be divided into three types: the conventional Steinert type linked to chromosome 19q13.3 (DM1) DM2/PROMM and PDM linked to chromosome 3q21.3 and families not linked to either chromosomal site. An important point in the comparison of the phenotypes of DM1 and DM2/PROMM is that no severe congenital type of DM2/PROMM has yet been described. Careful clinical evaluation of patients with DM2/PROMM shows that the similarities among the multisystemic myotonic disorders outweigh the differences. The multisystemic nature of these disorders leads to a spectrum of symptoms and signs. This review of myotonic dystrophies primarily concentrates on the clinical and genetic findings that can distinguish a novel form of myotonic dystrophy, myotonic dystrophy type 2 (DM2) proximal myotonic myopathy (PROMM) and proximal myotonic dystrophy (PDM) from myotonic dystrophy type 1 (DM1). Clinical and genetic heterogeneity in myotonic dystrophies Clinical and genetic heterogeneity in myotonic dystrophies
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