Steinert disease

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. Synonym(s): dystrophia myotonica, myotonia atrophica, myotonia dystrophica, Steinert disease

Steinert disease

S18-896040 (stin'ert) [Hans Gustav Wilhelm Steinert, Ger. physician, 1875–1911] Myotonia dystrophica.

Steinert,

(Steinhert), Hans, German physician, 1875–. Curschmann-Batten-Steinert syndrome - see under CurschmannSteinert disease - a chronic, slowly progressing disease marked by atrophy of the muscles, failing vision, lenticular opacities, ptosis, slurred speech, and general muscular weakness. Synonym(s): myotonic dystrophySteinert myotonic dystrophySteinert syndrome

单词	steinert disease
释义	DictionarySeemyotonic dystrophy Steinert disease my·o·ton·ic dys·tro·phy [MIM160900] 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. Synonym(s): dystrophia myotonica, myotonia atrophica, myotonia dystrophica, Steinert disease Steinert disease S18-896040 (stin'ert) [Hans Gustav Wilhelm Steinert, Ger. physician, 1875–1911] Myotonia dystrophica. Steinert, (Steinhert), Hans, German physician, 1875–. Curschmann-Batten-Steinert syndrome* - see under CurschmannSteinert disease - a chronic, slowly progressing disease marked by atrophy of the muscles, failing vision, lenticular opacities, ptosis, slurred speech, and general muscular weakness. Synonym(s): myotonic dystrophySteinert myotonic dystrophySteinert syndrome
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