Year: 2026
Type: conference-abstract
Abstract: Case Presentation: Male patient, 39 years old, from the rural area of Mato Grosso, with a history of delayed motor milestones since childhood, never having achieved independent walking. Despite seeking early care, there was a diagnostic delay due to negligent expectant management. The diagnosis of spinal muscular atrophy (SMA) was established at age 11, in 1995, via muscle biopsy. He showed good cognitive development, graduating with a law degree, but experienced progressive weakness. In 2011, he suffered a right upper limb trauma in a motor vehicle accident. He developed recurrent pneumonia and, in 2018, began experiencing dysphagia and dyspnea in lateral decubitus, leading to work disability. In 2021, genetic confirmation showed a homozygous deletion of the SMN1 gene and three copies of SMN2, compatible with SMA type 2. Treatment with nusinersen was initiated in March 2025, initially in an operating room via intrathecal administration, assisted by ultrasound due to significant scoliosis. After the second infusion, an improvement in fatigue was observed. After the fourth dose, in September 2025, there was a resolution of dysphagia and dyspnea, as well as functional recovery, with the return of the ability to bring food to his mouth. There was an improvement in distal strength in the left upper limb (from grade 3 to 4-), with progress in the HFMSE (2/7) and RULM (5/18) scales. Discussion: SMA is a neuromuscular disease caused by mutations in the SMN1 gene, leading to the progressive degeneration of motor neurons. Historically, management was purely supportive, especially in patients with a late diagnosis. With the advent of modifying therapies such as nusinersen, there has been a significant change in the course of the disease. However, most evidence focuses on pediatric patients and remains limited in adults, especially in advanced stages. This case highlights that, even after decades of disease progression, there is potential for relevant clinical benefit. The improvement of bulbar functions is particularly important, as it directly impacts the reduction of the risk of aspiration and respiratory complications. Furthermore, functional gains can result in a significant increase in autonomy and quality of life. The diagnostic delay, common in previous decades, possibly contributed to greater neuronal loss, emphasizing the importance of early diagnosis and timely access to therapies. Final Comments: This case demonstrates that the approach used in childhood resulted in a late diagnosis and progression of damage that could have been mitigated, despite the absence of treatment at the time. Nusinersen can provide significant clinical benefits even in adult patients with SMA type 2. In this report, the stabilization of symptoms, especially bulbar functions, and functional recovery reinforce the relevance of late treatment, challenging the view of complete irreversibility in these cases.
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: gold
OpenAlex ID: W7225061908