Evaluation of clinical and functional abnormalities in Pompe disease: Case Report Avaliação das anomalias clínico-funcionais na doença de Pompe: Relato de Caso

The patient was a 15 year-old girl who turned out at the Physical Therapy Clinic presenting progressive scoliosis and angle of 50o Coob by X-Ray. She complained of back pain, headache and weakness of shoulder and pelvic girdle. Physical therapy evaluation came across features of delayed motor development and undernourishment, together with generalized muscle weakness (grade = 4) which was observed by the Kendall test. Lung vital capacity was 40.5%. Clinical Changes: studies of the enzymes with acid alpha-glucosidase assay kits used on filter paper and leukocytes showed low enzyme activity, suggesting a late form of the Pompe disease. The molecular studies proved that the patient had a mutation associated with late-onset Pompe disease. Acid alpha-glucosidase enzyme assay studies performed in skin fibroblasts showed a reduction of the enzymatic activity of the acid alpha-glucosidase, confirming the previous results. On account of the results, Pompe disease induced important changes in clinical and functional, as well as metabolic changes, decreased strength and muscle action potentially, biomechanical changes in the spine and changes in respiratory capacity. Furthermore, this case of Pompe disease illustrates the importance of adequate physical therapy evaluation as it can be the starting point of investigation of serious conditions such as late onset Pompe disease.