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Thomsen syndrome (congenital myotonia syndrome; myotonia congenita)


Thomsen Syndrome (Congenital Myotonia Syndrome; Myotonia Congenita)

General: Dominant; inheritance manifestations before age 5 years; prevalent in males; possibly caused by ex 343e42d cessive production of acetylcholine neuromuscular junction; emotions and cold enhance symptoms; warmth decreases symptoms; there are two types of this disorder, an autosomal dominant and an autosomal recessive, both with the same Clinical features; has been linked to chromosome 7q35 in the region of the human skeletal muscle chloride channel gene (HUMCLC).

Ocular: Inability to open eyelids for a few seconds after closure; spasm of the orbicularis oculi muscle; extraocular muscle paresis.

Clinical: Myotonia with muscles of upper and lower extremities primarily affected; muscle hypertrophy; pronounced delay in relaxation of contracted voluntary muscles.



Adams RD, Victor M. Congenital myotonia. In: Adams RD, Victor M. Principles of neurology, 5th ed. New York: McGraw-Hill, 1993:1275-l278.

Ashworth B. Ocular myotonia. Bristol Med Chir J 1975; 90:31-35.

Brooke NM, Cwik VE. Disorders of skeletal muscle: myotonia congenita. In: Bradley WG, ed. Neurology in Clinical practice, 2nd ed. Boston: Butterworth-Heinemann, 1995:2026-2027.

George AJ Jr, et al. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenital. Nat Genet 1993; 3:305-310.

Miller NR, ed. Walsh and Hoyt's Clinical Ophthalmology, 4th ed. Baltimore: Williams & Wilkins, 1987.

Thomsen AJT. Myotonia Congenita: Tonische Krampfe in Willkurlich Beweglichen Muskeln in Folge von Ererbter Physischer Disposition (Ataxia Muscularis?). Arch Psych 1876; 6:702.




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