Alulin Tácio Quadros Santos Monteiro Fonseca

Duchenne muscular dystrophy is a rare, progressive neuromuscular disorder primarily affecting boys, and it follows a predictable course. Early intervention is essential for effective management, but disparities in the care of patients with rare diseases hinder access to optimal treatment. To identify unmet needs and challenges in the care of patients with Duchenne muscular dystrophy within the Brazilian public health system compared with the private system. A cross-sectional observational study using the Delphi method was conducted with ten neurologists specialized in Duchenne muscular dystrophy. The specialists participated in rounds of surveys to reach consensus on key issues, including diagnosis, treatment, and care. Data was analyzed using descriptive statistics. According to the Delphi panel, the public health system had an average diagnostic delay of 25 months compared with 10 months in the private sector. Although genetic testing is critical, it is not funded by the public health system. Other barriers included delayed corticosteroid treatment, limited access to multidisciplinary care, and insufficient medical devices. Patients in the public health system lost ambulation earlier (11–12 years of age) than those in the private sector (13–14 years of age). Life expectancy was significantly shorter in the public system, averaging 19 to 20 years compared with 26 to 27 years of age in the private sector. There are significant disparities in the care of patients with Duchenne muscular dystrophy within Brazil's public health system, resulting in worse outcomes. Enhancing access to genetic testing and early multidisciplinary care is crucial to improve the quality of life and survival of these patients.

Background The COVID-19 pandemic has brought substantial challenges for current practices in treating hereditary neuromuscular disorders (hNMDs). However, this infection has not been the only concern for these patients. Social distancing has compromised multidisciplinary assistance and physical activity, and has brought about several mental health issues. We presented a follow-up on 363 patients with hNMDs at a Brazilian tertiary center during the peak of the COVID-19 pandemic. Objective We aimed to show the frequency and severity of SARS-CoV-2 infection among hNMD patients and to demonstrate the effects of the pandemic on life habits, disease progression and multidisciplinary supportive care status. Methods Three hundred and sixty-three patients (58% male and 42% female) were followed for three months through three teleconsultations during the peak of the COVID-19 pandemic in Brazil. Results There were decreases in the numbers of patients who underwent physical, respiratory and speech therapies. For several patients, their appetite (33%) and sleep habits (25%) changed. Physical exercises and therapies were interrupted for most of the patients. They reported new onset/worsening of fatigue (17%), pain (17%), contractions (14%) and scoliosis (7%). Irritability and sleep, weight and appetite changes, and especially diminished appetite and weight loss, were more frequent in the group that reported disease worsening. There was a low COVID-19 contamination rate (0.8%), and all infected patients had a mild presentation. Conclusion The isolation by itself was protective from a COVID-19 infection perspective. However, this isolation might also trigger a complex scenario with life habit changes that are associated with an unfavorable course for the NMD.