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- W1993084973 abstract "Les mucopolysaccharidoses font partie des maladies de surcharge lysosomiale. Il existe des phénotypes différents. La plupart débutent chez le nouveau né, le nourrisson ou le grand enfant et se traduisent par un large éventail d’atteintes cliniques notamment neurologique. Elles sont alors source d’un polyhandicap souvent sévère. Les nouveaux traitements offrent l’espoir de prévenir ou d’arrêter le processus pathologique (greffe de moelle osseuse, enzymothérapie substitutive, thérapie génique). Toutefois, Le traitement actuel reste largement symptomatique et multidisciplinaire. Le but de cet article est de mettre l’accent sur l’importance de la prise en charge rééducative qui doit être le plus précoce possible afin d’éviter les situations de surhandicap et permettre le développement des capacités potentielles et l’insertion familiale, scolaire et sociale assurant ainsi le maintien d’un état neuro-orthopédique et trophique en attendant l’avènement des thérapeutiques curatives. Mucopolysaccharidosis constitutes a group of diseases of with characteristic lysosome overload. Several phenotypes are described. Most begin at birth or may affect infants or older children. A wide range of symptoms, notably neurological manifestations, can cause severe handicaps. New treatments (bone marrow transplantation, enzyme replacement therapy, gene therapy) are targeted at limiting the pathological process, but at the present time, current treatment remains largely symptomatic based on multidisciplinary care. The aim of this article is to emphasize the importance of rehabilitation care which must start as soon as possible to avoid worsening the handicap and to allow the development of the patient s potential capacities for home, school and social activities. Preservation of trophic and neuro-orthopedic status while waiting for truly curative therapeutics is also an advantage." @default.
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- W1993084973 date "2005-12-01" @default.
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- W1993084973 title "La prise en charge des mucopolysaccharidoses en milieu de Médecine Physique et Réadaptation fonctionnelle" @default.
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- W1993084973 doi "https://doi.org/10.1016/s0242-648x(05)81202-2" @default.
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