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Thomsen's disease

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A benign disease, present from birth, with onset of symptoms in early life. It is characterised by myotonia, hyperexcitability, and hypertrophy of the voluntary muscles, with spasms and an inability to relax the muscles immediately after forceful contraction. In a few minutes, rigidity wears away and the movements become free from repeated contractions, the muscles becoming firm and well developed. Masticatory, laryngeal, and ocular muscles may also be affected. Emotions and cold enhance symptoms. Warmth decreases them. Prevalent in males. Incurable but may improve with age. Inheritance is autosomal dominant.

The condition was first described by Ernst Viktor von Leyden (1832-1910) in 1866 and 1874. Thomsen described the condition in himself and his family. Ernst Adolf Gustav Gottfried von Strümpell (1853-1925) in 1881 suggested the term "Myotonia" congenita. The term "Thomsen's disease" was suggested by Karl Friedrich Otto Westphal (1833-1890) in 1883.


  • E. V. von Leyden:
    Klinik der Rückenmarkskrankheiten. Berlin, 1874: I: 128.
  • J. Thomsen:
    Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter physischer Disposition (Ataxia muscularis?).
    Archiv für Psychiatrie und Nervenkrankheiten, Berlin, 1875/1876, 6: 702-718. Nachträgliche Bemerkungen über Myotonia congenita (Strümpell), Thomsen’sche Krankheit (Westphal).
    Archiv für Psychiatrie und Nervenkrankheiten, Berlin, 1892, 24: 918–923 Zur Thomsen’schen Krankheit. Brief an Prof. M. Bernhardt.
    [Erlenmeyer’s] Centralblatt für Nervenheilkunde, Psychiatrie und gerichtliche Psychopathologie, Coblenz, 1885.
    Referring to the German neurologist Martin Bernhardt (1844-1915).
  • A. Strümpell:
    Tonische Krämpfe in willkürlich bewegten Muskeln.
    Berliner klinische Wochenschrift, 1881, 18:119.
  • C. Westphal:
    Demonstration zweier Fälle von Thomsen'scher Krankheit.
    Berliner klinische Wochenschrift, 1883, 20: 153.
  • Albert Eulenburg (1840-1917):
    Ueber eine familiäre, durch 6 Generationen verfolgbare Form congenitaler Paramyotonie. Neurologisches Centralblatt, 1886, 5: 265.
  • Charles Loomis Dana (1842-1935):
    An atypical case of Thomsen’s disease (myotonia congenita).
    Medical Record, New York, 1888, 33: 433-435.
    Dana described a combination of myotonia and muscular atrophy.
  • Andre-Thomas, Julián de Ajuriaguerra (1911-1991)-
    Maladie de Thomsen et épilepsie – reaction myotonique aux deplacements passifs – action de la quinine. Revue neurologique, Paris, 1944, 76: 87–89.
We thank Dr. Günter Krämer, Zürich, Switzerland, for information submitted.

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