TERMIUM Plus®

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BATTENS DISEASE [1 record]

Record 1 2011-03-17

English

Subject field(s)
  • Genetics
DEF

A rare, slowly progressive hereditary disease transmitted as an autosomal dominant trait, characterized by myotonia followed by atrophy of the muscles (especially those of the face and neck), cataracts, hypogonadism, frontal balding, and cardiac abnormalities.

French

Domaine(s)
  • Génétique
DEF

Affection héréditaire à transmission autosomique dominante, caractérisée par une atrophie musculaire extrême atteignant la face et l'extrémité distale des membres, associée à une myotonie modérée. Les troubles dystrophiques ne sont pas seulement limités au tissu musculaire, mais peuvent aussi atteindre les cheveux (alopécie), le cristallin (cataracte) et les gonades.

CONT

Quant aux complications testiculaires de la myopathie myotonique (maladie de Steinert), elles sont tardives et précédées d'une période de fertilité.

Spanish

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