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. As a result, non-muscular symptoms came to be recognized as features of the disorder.
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.
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