Abstract
Myotonic dystrophy type 2 (DM2) or proximal myotonic myopathy (PROMM) is a multisystemic disease typically characterized by proximal muscle weakness with myotonia, cardiac manifestations, and cataract. The onset of symptoms usually occurs during adulthood, and congenital or childhood onset has never been observed. A variable clinical phenotype may be characterized by proximal limb-girdle muscle weakness, myalgia, myotonia, rare involvement of the facial muscles, tremors, cardiac arrhythmia, conduction defects, cardiomyopathy (making cardiac monitoring necessary in all patients), posterior capsular opacification, endocrinal anomalies, testicular atrophy, insulin resistance and diabetes, and central nervous system abnormalities (visuospatial defects).
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