La prise en charge des mucopolysaccharidoses en milieu de Médecine Physique et Réadaptation fonctionnelle

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.