| 单词 | congenital paramyotonia |
| 释义 | > as lemmascongenital paramyotonia Atypical myotonia; spec. (more fully congenital paramyotonia, paramyotonia congenita) a familial (autosomal dominant) disorder characterized by attacks of myotonia typically triggered by exposure to cold, with intermittent flaccid muscle weakness, caused by mutations of the skeletal muscle sodium channel. ΘΚΠ the world > health and disease > ill health > a disease > disorders of internal organs > convulsive or paralytic disorders > [noun] > other convulsive paralysis akinesia1721 akinesis1841 pharyngoplegy1858 asynergy1860 astasia1861 paramyotonia1886 abasia1888 lathyrism1888 Horner's syndrome1929 tardive dyskinesia1964 1886 W. R. Gowers Man. Dis. Nerv. Syst. I. iii. 416 Under the name of Congenital Paramyotone Eulenberg [sic] has described a strange family affection allied to Thomsen's disease in its general character. 1892 W. R. Gowers Man. Dis. Nerv. Syst. (ed. 2) I. 541 Ataxic paramyotone seems the best provisional designation for an acquired condition of which one case has come under my notice. 1953 R. D. Adams et al. Dis. Muscle xii. 511 The validity of separation of a group of cases as paramyotonia by Eulenberg [sic] because the myotonia appeared only on exposure to cold is therefore doubtful. 1958 Jrnl. Amer. Med. Assoc. 11 Oct. 828/1 Features warranting delineation of Eulenberg's [sic] paramyotonia as a specific syndrome are presented. 1978 R. B. Scott Price's Textbk. Pract. Med. (ed. 12) xvii. 1393/2 It [sc. myotonia] occurs in three hereditary syndromes, all of autosomal dominant inheritance, namely myotonia congenita, dystrophia myotonica, and paramyotonia. 1999 Jrnl. Neurosci. 19 4762 Hyperkalaemic periodic paralysis, paramyotonia congenita, and potassium-aggravated myotonia are three autosomal dominant skeletal muscle disorders linked to the SCN4A gene encoding the alpha-subunit of the human voltage-sensitive sodium channel. < as lemmas |
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