dystrophia myotonica


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dystrophia

 [dis-tro´fe-ah] (Gr.)
dystrophia adiposogenita´lis adiposogenital dystrophy.
dystrophia epithelia´lis cor´neae dystrophy of the corneal epithelium, with erosions.
dystrophia myoto´nica myotonic dystrophy.
dystrophia un´guium changes in the texture, structure, and/or color of the nails due to no demonstrable cause, but presumed by some to be attributable to some disturbance of nutrition.

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.

dystrophia myotonica

A hereditary AUTOSOMAL DOMINANT condition which presents in early adult life with wasting of the muscles of the face, neck and shoulders and spreads to the arms and legs. The muscles relax very slowly after contracting. The condition also features drooping eyelids (PTOSIS) and CATARACT.
References in periodicals archive ?
The incidence of dystrophia myotonica in the general population is estimated to be 5 in 100,000 people (0.
Derbynnir rhoddion ar gyfer Ymchwil Afiechyd Muscular Dystrophia Myotonica Cymru.