myotonia dystrophica


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Related to myotonia dystrophica: myotonic muscular dystrophy

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·ton·ic dys·tro·phy

[MIM*160900]
the most common adult muscular dystrophy, characterized by progressive muscle weakness and wasting of some of the cranial innervated muscles, as well as the distal limb muscles; other clinical features include myotonia, cataracts, hypogonadism, cardiac abnormalities, and frontal balding; onset usually in the the third decade; autosomal dominant inheritance caused by abnormal trinucleotide repeat expansion in the dystrophia myotonica protein kinase gene (DMPK) on chromosome 19q. This disorder demonstrates anticipation (increase in severity in successive generations because of successive amplification of the trinucleotide repeats); the severe congenital form is almost always confined to the children of affected women.

myotonia dystrophica

(1) Thomsen disease, see there; also known as myotonia congenita. 
(2) Myotonic dystrophy, see there.

myotonia dystrophica

A dominantly inherited disease characterized by muscular wasting, myotonia, and cataract. Synonym: myotonia atrophica; Steinert's disease
See also: myotonia