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La maladie de Sandhoff de type 1

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La maladie de Sandhoff fait partie de la famille des maladies lysosomales. Elle se présente sous trois formes. Il y a la maladie de Sandhoff type 1 qui est infantile, la maladie de Sandhoff de type 2 qui est juvénile et la maladie de Sandhoff type 3 qui est adulte. Dans chacun des cas, la victime n’y survivra pas du fait que qu’il n’existe pas encore de remède efficace.

Toutefois ce qui nous intéresse dans ce cas précis est la maladie de Sandhoff de type 1. Celle-ci est la plus fréquente. On le voit très souvent chez des enfants à très bas âge.

Les caractéristiques de la maladie de Sandhoff de type 1

La maladie de Sandhoff de type 1 apparait chez l’enfant avant l’âge de 4 mois. Elle est dite lysosomale car elle est due à un défaut de fonctionnement au niveau du lysosome. Cette défaillance est à la … Read More

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