Dados do Trabalho

Título

Characterization of the respiratory profile of patients with spinal muscular atrophy in a terciary center

Resumo

Introduction: Spinal muscular atrophy (SMA) is a disease of motor neurons due to mutations in the SMN1 gene. Respiratory involvement is the main cause of death in SMA and respiratory care should be introduced early in disease course. Knowledge about the respiratory clinical profile is necessary to ensure the appropriate ventilatory management in SMA patients.
Objective: To present the respiratory clinical profile of SMA patients followed up at a tertiary center.
Methods: Descriptive and retrospective study carried out from July 2021 to June 2022. Data was collected from medical records of respiratory physiotherapy assessments, such as use of invasive and non-invasive ventilation support, forced vital capacity (FVC), peak cough flow (PCF), oxygen saturation, heart rate, chest deformity and scoliosis.
Results: A total of 45 SMA patients were included, 27 (60%) male and 18 (40%) female. Mean age was 12.9±9.5 years, mean height was 1.39±0.26 m, and mean weight was 38.2±22.43 kg. Most patiens (49%) were SMA type 2, 36% were type 3 and 14% were type 1. Only 11% had recurrent respiratory infections, 13% had symptoms of alveolar hypoventilation, 0.04% had a paradoxical pattern and 13% complained of dyspnea. Three (6%) patients had a history of weight loss and 13 (29%) had dysphagia. Regarding the use of ventilation support, 14 (31%) use non-invasive and 4 (8%) use invasive. The mean FVC was 1.81±1.45 l, with 24% of patients with severe restrictive ventilatory impairment, 6% with moderate restrictive impairment, 11% with mild restriction and 37% of the patients had no decrease in FVC. The mean PCF was 250.27±139.98 l/min. Mean oxygen saturation was 97±0.70%, heart rate was 94±15 beats per minute, respiratory rate was 20±5 breaths per minute and 55% of the patients had chest deformities.
Conclusion: Through an evaluation of ventilatory clinical parameters, it was possible to classify and identify the degree respiratory involvement SMA patients. It is remarkable that severe ventilatory restriction is the most frequent finding. Such information will be useful for planning the respiratory management and care of these patients.