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Myotonia congenita
Hierarki: | ∟ ∟ ∟ ∟ Myotonia congenita 26 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Myotonia congenita 26 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Myotonia congenita 26 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ Myotonia congenita 26 sidobegrepp∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ ∟ |
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Anmärkning: | A dominantly inherited muscle disease that begins in early childhood and is characterized by severe myotonia (delayed relaxation of a muscle) after forceful voluntary contractions. Muscular hypertrophy is common and myotonia may impair ambulation and other movements. Myotonia typically becomes less severe with repetitive voluntary contractions of the affected muscles. Generalized myotonia (of Becker) is an autosomal recessive variant of myotonia congenita that may feature more severe myotonia and muscle wasting. (From Adams et al., Principles of Neurology, 6th ed, pp1476-7; Joynt, Clinical Neurology, 1997, Ch53, p18)
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activeMeSHYear*: | |
dateCreated*: | 1999-01-01X |
dateRevised*: | 2001-07-25X |
recordAuthorizer*: | sjnX |
recordMaintainer*: | nnsX |
recordOriginator*: | NLMX |
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Termer och motsvarande begrepp: | Synnynnäinen myotonia (fi) XThomsens sjukdom (sv, ersatt) Thomsens Disease (en, ersatt) Thomsen's Disease (en, ersatt) Thomsen Disease (en, ersatt) Generalized Myotonia of Thomsen (en, ersatt) Myotonia, Generalized (en, ersatt) Myotonia, Generalized, Becker (en, ersatt) Generalized Myotonia of Becker (en, ersatt) Myotonia congenita (la-FI, ersatt) |
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