THOMSEN, Asmus Julius Thomas
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Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition (Ataxia muscularis?).Arch. Psychiat. Nervenkr., 6, 702-18, 1876.Thomsen suffered from muscle weakness and cramps, an issue that all his sons inherited. Realizing that this was a hereditary disease, Thomsen managed to trace the disease for six generations, and found over 20 cases of it in his family. Thomsen was motivated to research this problem when his youngest son was accused of being a malingerer. with respect to military service. It took the authorities almost two months of medical examinations to confirm that the son really suffered from a disease. Thomsen first described the disease, myotonia congenita, in the above paper. The name Thomsen's disease was proposed in 1883 by Karl Friedrich Otto Westphal .
Subjects: GENETICS / HEREDITY › HEREDITARY / CONGENITAL DISEASES OR DISORDERS › Inherited Neurological Disorders › Myotonia Congenita, NEUROLOGY › Myopathies |