myotonia congenita


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myotonia

 [mi″o-to´ne-ah]
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.

my·o·to·ni·a con·gen·i·ta

[MIM*160800]
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

myotonia congenita

(kən-jĕn′ĭ-tə)
n.
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.

myotonia congenita

Thomsen's disease Neurology An AD or AR condition characterized by deficiency of true cholinesterase Clinical Inability of muscles to relax quickly, resulting in myotonia, gagging, dysphagia, stiff movement that improves with repetition; Pts are often muscular. See Myotonia.

myotonia congenita

A dominant genetic disease in which the affected person has great difficulty in relaxing muscles after they have been contracted. A grasp can be released only slowly and with great difficulty and the tightly shut eyes may take many seconds to open again. The condition gradually improves with age.
References in periodicals archive ?
One form of myotonia congenita does not become more severe with time, while another form does, progressing until the early adult years, by which time the disorder may have led to some muscle weakness.
The condition is seldom progressive and, like most forms of myotonia congenita, is not associated with muscle wasting.
However, it differs from myotonia congenita in being more readily triggered by cold and in that the myotonia in paramyotonia congenita becomes worse rather than better with repetitive activity.
A number of different defects in this same gene have been found to be associated with hyperkalemic periodic paralysis, at least one form of myotonia congenita and paramyotonia congenita.
However, this myotonia is neither muscle-wasting nor progressive, as it is in myotonic dystrophy, nor does it affect all muscle groups as does myotonia congenita.