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History of Neurology: Seminal Citations
August 2005

Myotonic Dystrophy

Author Affiliations

Author Affiliations: Department of Neurology, University of Virginia, Charlottesville. Dr Tramonte is now with the Department of Neurology, Scott & White Memorial Hospital, Temple, Tex.



Arch Neurol. 2005;62(8):1316-1319. doi:10.1001/archneur.62.8.1316

Myotonic dystrophy (DM) is a multisystem autosomal dominant inherited disease that primarily affects the nervous system, causing myotonia and a characteristic pattern of muscular atrophy and weakness. Careful clinical description in the late 19th and early 20th centuries separated DM from a similar muscle disease, myotonia congenita, allowing it to emerge as a distinct nosologic disease entity. The electrical characteristics of myotonia were described in the early to mid 20th century. Assiduous study of the clinical features and genetics of DM, including the phenomenon of anticipation, culminated in the discovery of the genetic mutations underlying DM in the early 1990s.

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