1 - Serviço de Medicina Física e de Reabilitação, Área de Pediatria, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
2 - Centro de Referência de doenças metabólicas, Área de Pediatria, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
3 - Centro de Referência de doenças metabólicas, Área de Pediatria, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisboa
- reunião internacional; e-poster; 17º Simpósio Internacional da Sociedade Portuguesa de Doenças Metabólicas
Mucopolysaccharidosis are a group of rare disorders of lysosomal accumulation of undegraded glucosaminoglycans. Independently of the disease’s rate of progression, it leads to cummulative disability, namely to accumulation of mucopolysaccharides in the connective tissue which contribute to decreased motor abilities. The degree and type of motor impairment is specific to the child’s diagnosed disease. Thus, the integration of Physical Medicine and Rehabilitation (PM&R), as an obligatory baseline approach, has to be a reality to these patients. Presently, amongst the several treatment guidelines to the various types of MPS, only some of them refer to PM&R. In this presentation, the author focuses on the role of PM&R on early detection of musculoskeletal and neurological problems, and highlights the need of a planned timeframe for patient PM&R observation, as well as of a planned timeframe for imaging/ electrophysiology studies, in order to detect the presence of early signs of peripheral nerve entrapment and myelopathy. The last part of the talk will focus on the PT and OT interventions and environmental adaptations to increase the patient’s participation in society. Finally, a snapshot of today’s functionality of the MPS patients on outpatient clinic at Hospital Dona Estefânia (Lisbon’s pediatric Hospital), will be presented, as well as of the Portuguese healthcare network for disabled children.
Palavras Chave: intervenção precoce; mucopolissacaridoses; reabilitação;