Evolução motora de paciente com mucopolissacaridose tipo 1 / Motor outcome in a patient with mucopolysaccharidosis type 1

OBJETIVO: Relatar os aspectos funcionais de uma criança com mucopolissacaridose tipo 1, descrevendo suas principais alterações após breve tratamento fisioterapêutico. DESCRIÇÃO DE CASO: Criança com 34 meses, portadora de mucopolissacaridose tipo 1 iniciou tratamento fisioterapêutico, duas vezes por semana, durante 50 minutos, sendo avaliada mensalmente por meio das atividades propostas pela Escala de Desenvolvimento Motor (EDM), que analisa a motricidade fina e global, o equilíbrio, o esquema corporal e a organização temporal e espacial. Na primeira avaliação, a criança apresentava-se com 34 meses de idade cronológica e 18 meses de idade motora geral, com melhor pontuação no item organização espacial, segundo a EDM. Após quatro meses, a idade motora geral era de 20 meses; porém, houve melhora da motricidade global. COMETÁRIOS: A análise das atividades funcionais do paciente relatado demonstrou atraso no desenvolvimento motor. A intervenção terapêutica possibilitou evolução favorável, principalmente na motricidade global, mesmo tratando-se de um portador de doença evolutiva.

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.

Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients.

The aims of the study were to assess the effectiveness of enzyme replacement therapy (ERT) with laronidase on the range of motion (ROM) of upper extremities and influence on activities of daily living (ADLs) of patients with mucopolysaccharidosis type I (MPS I). The ROM of 17 patients with MPS I was followed from the first year of life until the introduction of ERT and after 52-208 weeks of treatment. In all patients (group 1, n = 10), passive ROM was assessed. In patients with Hurler/Scheie or Scheie phenotype (group 2, n = 7) both passive and active ROM, as well as daily life activities, were evaluated. Passive and active ROM was measured by a goniometer, while a health assessment questionnaire was used to assess activities of daily living. The data since the first months of life until the beginning of treatment were obtained by retrospective review of patients' charts. Restriction in ROM of the upper extremities of patients with MPS I was observed from the first year of life. These limitations intensified and became more severe with the patients' age, making patients' self-care more difficult or even impossible. Introduction of ERT led to slower progression of symptoms, especially in the passive range of motion in all patients. Additionally, patients with normal mental development, or only slightly delayed (group 2), who underwent active physical rehabilitation (including mobilisation of nerve system, passive techniques for joint mobility, active gymnastics for muscle power, as well as massage and the training of families for therapy at home) showed improvement in active movement followed by enhanced self-care.

Physical performance testing in mucopolysaccharidosis I: a pilot study.

OBJECTIVE: To develop and field-test a physical performance measure (MPS-PPM) for individuals with Mucopolysaccharidosis I (MPS I), a rare genetic disorder. METHODS: Motor performance and endurance items were developed based on literature review, clinician feedback, feasibility, and equipment and training needs. A standardized testing protocol and scoring rules were created. The MPS-PPM includes: Arm Function (7 items), Leg Function (5 items), and Endurance (2 items). Pilot data were collected for 10 subjects (ages 5-29 years). We calculated Spearman's rho correlations between age, severity and summary z-scores on the MPS-PPM. RESULTS: Subjects had variable presentations, as correlations among the three sub-test scores were not significant. Increasing age was related to greater severity in physical performance (r = 0.72, p<0.05) and lower scores on the Leg Function (r = -0.67, p<0.05) and Endurance (r = -0.65, p<0.05) sub-tests. The MPS-PPM was sensitive to detecting physical performance deficits, as six subjects could not complete the full battery of Arm Function items and eight subjects were unable to complete all Leg Function items. Subjects walked more slowly and expended more energy than typically developing peers. CONCLUSIONS: Individuals with MPS I have difficulty with arm and leg function and reduced endurance. The MPS-PPM is a clinically feasible measure that detects limitations in physical performance and may have potential to quantify changes in function following intervention.