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单词 myotonia congenita
释义

myotonia congenitan.

Brit. /mʌɪə(ʊ)ˌtəʊnɪə kənˈdʒɛnᵻtə/, U.S. /ˈˌmaɪoʊˌtoʊniə kənˈdʒɛnədə/
Origin: A borrowing from Latin. Etymon: Latin myotonia congenita.
Etymology: < scientific Latin myotonia congenita (A. Strümpell 1881, in Berliner klin. Wochenschr. 28 Feb. 121/2) < myotonia myotonia n. + congenita , feminine of congenitus congenital (see congenite adj.).
Medicine.
A rare hereditary disease manifesting soon after birth and characterized by myotonia but without muscular wasting or other symptoms. Also called Thomsen's disease.
ΘΚΠ
the world > health and disease > ill health > a disease > congenital or hereditary syndromes > [noun]
amyelia1865
amelia1872
congenital myotonia1886
myotonia congenita1887
Thomsen's disease1890
von Recklinghausen's disease1899
pseudoxanthoma1900
Werdnig–Hoffmann1903
myotonia atrophica1908
Fröhlich1909
Milroy's disease1909
Lindau disease1928
Steinert's disease1932
von Hippel–Lindau disease1932
Werner's syndrome1934
Sturge–Weber syndrome1935
gargoylism1936
Morgagni's syndrome1936
Hurler's disease1937
von Willebrand1941
Turner1942
autism1944
hypophosphatasia1948
Klinefelter1950
mucopolysaccharidosis1952
progeria1957
Pendred1960
Down's syndrome1961
Patau's syndrome1961
Marinesco–Sjögren syndrome1962
cri du chat syndrome1964
Prader–Willi syndrome1964
Noonan syndrome1965
Lesch-Nyhan syndrome1966
Wernicke–Korsakoff1966
Down1967
mannosidosis1969
mucolipidosis1970
Asperger's syndrome1971
Angelman syndrome1972
adrenoleukodystrophy1973
SCID1973
severe combined immune deficiency1973
Miller–Dieker syndrome1980
Asperger1988
Asperger's disorder1994
the world > health and disease > ill health > a disease > diseases of tissue > disorders affecting muscles > [noun] > myotonia > disease characterized by
congenital myotonia1886
myotonia congenita1887
Thomsen's disease1890
myotonia atrophica1908
dystrophia myotonica1923
myotonic dystrophy1929
myotonia dystrophica1956
1887 Jrnl. Nerv. & Mental Dis. 14 129 (heading) Thomsen's disease (myotonia congenita).
1949 H. W. C. Vines Green's Man. Pathol. (ed. 17) xix. 485 Myotonia congenita (Thomsen's disease).—This congenital affection..consists of persistent tonic contractions of muscles when they are thrown into action.
1963 J. E. Caughey & N. C. Myrianthopoulos Dystrophia Myotonica xviii. 216 Myotonia congenita..was described in detail in 1876 by Dr. Asmus Julius Thomsen who was himself affected and in whose family it had occurred for five generations.
1974 J. T. Hughes Pathol. Muscle iv. 76 In contrast to myotonia congenita and paramyotonia congenita, dystrophia myotonica is frequently diagnosed.
This entry has been updated (OED Third Edition, June 2003; most recently modified version published online March 2022).
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n.1887
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