OBJECTIVE: To report the functional aspects of a child with mucopolysaccharidosis type 1 and to describe its main dysfunctions after a brief physiotherapy intervention. CASE DESCRIPTION: A 34 months old child with mucopolysaccharidosis type 1 started a physiotherapy treatment twice a week (50 minutes each session). Her motor skills were monthly evaluated by the Motor Development Scale (MDS), which analyzes fine and global motor skills, balance, body schema and temporal and spatial organization. In the first evaluation, the child had 34 months of chronological age and 18 months of global motor age, with better performance in spacial organization, according to MDS. After four months, the child had 20 months of general motor age; however, the global motor skills improved. Comments: The analysis of the patient's functional activities showed motor delay. The therapeutic intervention allowed favorable outcome, mainly in the global motor skills, even considering the presence of a progressive disease.
developmental disabilities; mucopolysaccharidosis I; child development; physical therapy
