myotonia congenita(redirected from Myotonia Congentia)
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any disorder involving tonic spasm of muscle. adj., adj myoton´ic.
myotonia atro´phica myotonic dystrophy.
myotonia conge´nita a hereditary disease marked by tonic spasm and rigidity of certain muscles when attempts are made to move them. The stiffness tends to disappear as the muscles are used.
myotonia dystro´phica myotonic dystrophy.
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
Any of several types of heritable diseases, including Becker disease and Thomsen disease, that are caused by mutations in the genes that affect chloride ion channels in the skeletal muscles and are characterized by tonic spasm and temporary rigidity of certain muscles after an attempt has been made to move them.
myotonia congenita(1) Becker muscle dystrophy, see there.
(2) Paramyotonia congenita, see there; also known as Thomsen disease.