Alexandra Prufer de Queiroz Campos Araújo

Spinal muscular atrophy (SMA), linked to chromosome 5q, is a rare hereditary neurodegenerative disease characterized by progressive motor neuron loss. It is classified into subtypes based on age at onset and the highest motor milestone achieved. This cross‐sectional observational study aimed to describe the clinical profile of patients with types 2 and 3 SMA followed within the Brazilian Public Health System (SUS). Clinical data from patients with types 2 and 3 SMA followed at nine national reference centers (2020–2021) were analyzed. A total of 155 patients were included: 76 with type 2 and 79 with type 3 SMA. Disease duration was longer in type 3 patients. Time from symptom onset to genetic confirmation was also longer in this group. Functional impairment was observed in both subtypes. Type 2 patients had lower HFMSE scores overall, though higher scores were seen among those on disease‐modifying therapies. In type 3, earlier symptom onset and longer disease duration were associated with worse motor outcomes. HFMSE scores varied with treatment use and disease duration. Findings reveal the clinical heterogeneity of SMA and emphasize the impact of diagnostic delays and disease duration on function. Early diagnosis and ongoing multidisciplinary care are crucial.

Background: Neuromuscular disorders are a heterogeneous group of genetic or acquired diseases affecting the anterior horn, peripheral nerves, neuromuscular junctions, or muscles. Given their multisystemic complexity, comprehensive care and standardized evaluation tools are essential. Objective: To describe the development, implementation, and utility of the Neuromuscular Assessment Form (NAF) as a tool for integrated clinical evaluation in patients with NMDs at a Brazilian reference center. Methods: A descriptive observational study was conducted using retrospective data from patients followed over the past thirty years at a reference center. The NAF was designed based on literature review, national therapeutic guidelines, and consultations with multidisciplinary specialists in pediatric neurology, physiotherapy, speech therapy, and other support areas. Results: The NAF enabled the systematic documentation of motor and multisystemic data, including cardiac, respiratory, nutritional, orthopedic, and neuropsychiatric functions. It facilitated interdisciplinary interventions and ensured continuity of care. Background: Neuromuscular disorders are a heterogeneous group of genetic or acquired diseases affecting the anterior horn, peripheral nerves, neuromuscular junctions, or muscles. Given their multisystemic complexity, comprehensive care and standardized evaluation tools are essential. Objective: To describe the development, implementation, and utility of the Neuromuscular Assessment Form (NAF) as a tool for integrated clinical evaluation in patients with NMDs at a Brazilian reference center. Methods: A descriptive observational study was conducted using retrospective data from patients followed over the past thirty years at a reference center. The NAF was designed based on literature review, national therapeutic guidelines, and consultations with multidisciplinary specialists in pediatric neurology, physiotherapy, speech therapy, and other support areas. Results: The NAF enabled the systematic documentation of motor and multisystemic data, including cardiac, respiratory, nutritional, orthopedic, and neuropsychiatric functions. It facilitated interdisciplinary interventions and ensured continuity of care. Conclusion: The NAF is a practical and effective tool for standardized clinical evaluation and longitudinal follow-up of patients with NMDs. It has the potential to promote equitable care and enhance research across different regions, especially in resource-limited settings. Future validation and integration into electronic health systems may further improve its applicability and impact.

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 Spinal muscular atrophy (SMA-5q) is a neurodegenerative disease characterized by progressive muscle atrophy, hypotonia, and weakness, with SMA 1 presenting symptoms within the first 6 months of life. Disease-modifying therapies have been approved, with better outcomes with earlier treatment. Objective To describe the safety and clinical efficacy of disease-modifying therapies based on SMN1 and SMN2 gene strategies concerning motor, respiratory, and bulbar function. Patients with SMA 1 were divided into 2 groups: those exclusively on nusinersen (group 1) and those transitioning to onasemnogene abeparvovec (OA) (group 2). Methods Over 18 months, patients were assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) scale, developmental milestones, ventilation needs and duration, nutritional support needs, consistency of food, and signs of dysphagia. There were ten patients, divided between the groups; in group 1, the average age for starting nusinersen was 53.6 (12–115) months, and, in group 2, the age was 7 (1–12) months for nusinersen and 15.2 (10–19) months for OA. Results Our results indicate that 70% of patients reached some motor milestones, with group 1 increasing by 10.2 points on the CHOP-INTEND scale, while group 2 increased by 33 points. Additionally, 90% of the patients experienced no respiratory decline, and 30% maintained oral feeding. No serious adverse effects or deaths were recorded. Conclusion Both groups showed improvement in motor function and stabilization of respiratory and bulbar function, with the difference between the groups possibly being related to the earlier treatment initiation. Thus, the present study provides valuable insights into the real-world safety and clinical efficacy of disease-modifying therapies for SMA 1 patients.

Spinal muscular atrophy (SMA) is a genetic neuromuscular progressive disorder that is currently treatable. The sooner the disease-modifying therapies are started, the better the prognosis. Newborn screening for SMA, which is already performed in many countries, has been scheduled to begin in the near future. The development of a well-organized program is paramount to achieve favorable outcomes for the child who is born with the disease and for the costs involved in health care. We herein present a review paper hoping to point out that SMA neonatal screening is urgent and will not increase the cost of its care.

Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1. SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced survival, especially in its more severe clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting by regulating the splicing of exon 7 of the SMN2 gene or adding a copy of the SMN1 gene through gene therapy, providing a drastic change in the natural history of the disease. In this way, developing therapeutic guides and expert consensus becomes essential to direct the use of these therapies in clinical practice. This consensus, prepared by Brazilian experts, aimed to review the main available disease-modifying therapies, critically analyze the results of clinical studies, and provide recommendations for their use in clinical practice for patients with SMA-5q. This consensus also addresses aspects related to diagnosis, genetic counseling, and follow-up of patients under drug treatment. Thus, this consensus provides valuable information regarding the current management of SMA-5q, helping therapeutic decisions in clinical practice and promoting additional gains in outcomes.

Introduction: Duchenne muscular dystrophy (DMD) is a recessive genetic disease linked to the X chromosome, leading to progressive muscle tissue loss. Initially, there is difficulty getting up from the floor and an increased frequency of falls. Maintaining ambulation as long as possible is essential, and the use of ankle-foot orthosis (AFO) has been investigated as an ally in this process. Objective: To verify the prescription and use of an AFO for ambulant boys with DMD. Methods: Information was collected using the medical records of 181 patients with DMD from the Neuropediatric Service of the Instituto de Puericultura e Pediatria Martagão Gesteira of the Universidade Federal do Rio de Janeiro. Variables used were: age at the first medical appointment, age at first symptoms, age at loss of independent gait, time between the first symptoms and loss of gait, prescription of orthosis, time of use, and surgical intervention in the lower limbs. Results: The orthosis was prescribed for 63.5% of patients and used by 38.1%. The range of orthosis time was 2 to 4 years (62.3%). The night sleep period was the most prescribed for orthosis use, with 67.2%. Patients who used the orthosis for a longer time were older at gait loss. However, the children who arrived earlier for the first appointment had a higher frequency of orthosis prescriptions and later loss of gait. Conclusion: The use of AFO can help maintain ambulation for longer in boys with DMD.