OBJECTIVES: SMA1, a rare, genetic neuromuscular disease that causes loss of both voluntary motor and bulbar functions, is usually fatal by 2 years of age if untreated. Data on caregiver burden associated with SMA1 are sparse. Here, we present data describing the impact of costs associated with care for patients with SMA1 on caregivers in Brazil.

METHODS: An online survey designed to collect health care resource utilization data on time spent and the economic impact of caring for patients with SMA1 was disseminated to voluntary non–health care professional adult caregivers in Brazil from September 2022 to March 2023.

RESULTS: Fourteen caregivers (mean age, 34.4 years) managing 14 patients (mean age, 0.7 years) with SMA1 responded. In 10/14 cases (71.4%), the patient’s mother was the primary or co-primary caregiver. Mean patient care time was 62.8 hours/week. Nine of 14 patients (64.3%) had a caregiver who stopped working entirely to provide care; two (14.3%) had a caregiver who reduced their working hours (average 4 hours per week). Impact to income was reported by 11 caregivers (78.6%), with a mean net monthly income reduction of 2,833.30 BRL. Within the last 6 months, four caregivers took days off from work for caregiving (mean, 22.5 days). Caregivers reported respiratory treatments, therapies, and physical therapy as their most time-consuming activities.

CONCLUSIONS: Caregivers of patients with SMA1 in Brazil reported a substantial impact on time, employment status, and income. The high degree of care required and financial pressure created can also have a substantial impact on caregiver health-related quality of life. Lost productivity associated with SMA1 imposes high direct and indirect societal burdens. Early SMA identification and early access to disease-modifying treatments may reduce the impact on caregivers and associated costs, because early treatment can improve patients’ clinical outcomes and health-related quality of life.