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PATHOGENESIS AND TREATMENT OF MYOTONIA CONGENITA

HENRY G. PONCHER, M.D.; HELEN WOODWARD, M.S.
Am J Dis Child. 1936;52(5):1065-1087. doi:10.1001/archpedi.1936.04140050021003.
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Myotonia congenita is a disease of the muscles characterized by slowness of relaxation after voluntary contraction. It is manifested clinically by tonic cramps and muscular hypertrophy. The hereditary nature and the detailed clinical picture of the disorder were first clearly elucidated, in 1876, by Thomsen, in whose family the disease had existed for five generations. Myotonia had previously been described as a symptom by Bell and Benedict, but the first authentic account of the disease was published by Leyden in 1874.1 Thomsen's2 report of 23 cases (including his own) in his own family stimulated a great deal of interest. At the suggestion of Bartels, a clinician in Kiel to whom Thomsen had submitted his manuscript, the title of his report was changed from "Ataxia Muscularis" to "Tonic Cramps in the Voluntary Muscles in Consequence of an Inherited Psychical Disposition." This title was selected because, in Bartel's opinion, the

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