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an uncommon muscle disorder, with onset in infancy or early childhood, characterized by muscle hypertrophy, myotonia, and a nonprogressive course; autosomal dominant inheritance; caused by mutations in the skeletal muscle chloride channel gene (CLCN1) on chromosome 7q.
Synonym(s): Thomsen disease
An autosomal dominant form of myotonia congenita that is less severe than Becker disease and usually presents earlier in childhood.
am·y·o·to·nia con·gen·i·ta(ā-mī'ō-tō'nē-ă kon-jen'i-tă)
1. Atonic pseudoparalysis of congenital origin (neither familial nor hereditary), observed especially in infants and characterized by absence of tone in muscles innervated by the spinal nerves.
Thomsen,Asmus J., Danish physician, 1815-1896.
Thomsen disease - a hereditary disease marked by tonic spasms that occur when voluntary movement is attempted. Synonym(s): Thomsen myotonia congenita
Thomsen myotonia congenita - Synonym(s): Thomsen disease