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- W1994992045 abstract "Steinert disease, also known as myotonic dystrophy type 1, is a muscle disease characterized by myotonia and by multiorgan damage that combines various degrees of muscle weakness, arrhythmia and/or cardiac conduction disorders, cataract, endocrine damage, sleep disorders and baldness. It is the most frequent of the adult-onset muscular dystrophies; its prevalence is estimated at 1/20 000 inhabitants. Diagnosis is confirmed by the demonstration of an abnormality at the 19q13-2 locus, with the use of molecular genetic techniques. Its transmission is autosomal dominant, and anticipation may occur, that is, disease may be more severe and occur earlier in offspring. Genetic counseling is often delicate for this condition because of the great variability of clinical expression, both within and between families. Prenatal diagnosis is proposed especially for maternal transmission because of the severity of the possible neonatal forms. Management ideally includes multidisciplinary annual follow-up. Disease course is usually slowly progressive but rapid deterioration may sometimes be observed. Life expectancy is reduced by the increased mortality associated with the pulmonary and cardiac complications. La maladie de Steinert ou dystrophie myotonique de type 1 est une dystrophie musculaire myotonique caractérisée par une myotonie et par une atteinte multisystémique associant, à des degrés divers, un déficit musculaire, des troubles du rythme et/ou de conduction cardiaque, une cataracte, une atteinte endocrinienne, des troubles du sommeil, une calvitie. Elle est la plus fréquente des dystrophies musculaires de l'adulte ; sa prévalence est estimée à 1/20 000 habitants. Le diagnostic de certitude repose sur la mise en évidence de l'anomalie génétique située en 19q13-2, par technique de génétique moléculaire. Sa transmission est autosomique dominante avec un phénomène d'anticipation. Le conseil génétique est souvent délicat dans cette affection en raison de la grande variabilité d'expression clinique inter- et intrafamiliale. Le diagnostic prénatal est proposé surtout en cas de transmission maternelle en raison de la gravité des formes néonatales possibles. La prise en charge nécessite idéalement un suivi multidisciplinaire annuel. L'évolution est habituellement lentement progressive mais une dégradation rapide peut parfois être observée. L'espérance de vie est grevée d'une mortalité accrue par complications pulmonaires et cardiaques." @default.
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- W1994992045 date "2007-06-01" @default.
- W1994992045 modified "2023-10-16" @default.
- W1994992045 title "Maladie de Steinert" @default.
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- W1994992045 doi "https://doi.org/10.1016/j.lpm.2007.01.002" @default.
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