Historical Background of Myotonic Dystrophy
Key Milestones
1876: Myotonia recorded in detail by Danish physician Thomsen who, along with many family members from four generations, suffered from myotonia congenita; also later known as Thomsen’s disease
1909: Steinert in Germany, Batten and Gibb in England first described disease, now known as myotonic dystrophy, as a distinct disorder different from myotonia congenita
1911: High prevalence of cataracts noted in individuals with myotonic dystrophy
1912: Myotonic dystrophy recognized as a generalized systemic disorder
1916: Detailed muscle changes analyzed under microscope
1918: Increase in severity and earlier onset in successive generations, known as anticipation, recognized
1936: EMG used to show myotonia is associated with profuse electrical activity in muscle
1947: First systematic family studies conducted
1953: Watson and Crick proposed a molecular structure for DNA, initiating the field of molecular genetics
1960: Congenital form with maternal transmission recognized
1992: Myotonic dystrophy Type 1, also known as DM1, gene identified on 19th chromosome
2000: Myotonic dystrophy first reproduced in experimental animal model
2001: Second gene identified, on chromosome 3, as cause of myotonic dystrophy type 2, also known as PROMM or DM2