Proximal myotonic myopathy and proximal myotonic dystrophy:: Two different entities?: The phenotypic variability of proximal myotonic syndromes

Multisystemic myotonic myopathies are characterised by a variable pattern of symptoms and signs and a variable degree of disease severity. Proximal myotonic dystrophy has been described as an entity distinct from proximal myotonic myopathy because of severe proximal muscle weakness and dystrophic changes on magnetic reasonace imaging and on muscle histopathology. We describe two siblings, one of them presenting with a proximal myotonic myopathy phenotype, the other with a proximal myotonic dystrophy-like phenotype. The variability of disease expression in these two siblings suggests that a proximal myotonic dystropohy-like variant may occur in proximal myotonic myopathy. (C) 2001 Elsevier Science B.V. All rights reserved.