Spinal muscular atrophy: therapeutic success, follow-up and perspectives of therapeutic benefit – a guide from specialists

*Correspondence: [e-mail].

Abstract

Background: The 5q spinal muscular atrophy (5qSMA) is a progressive and rare neuromuscular disease, whose clinical outcomes have improved with the introduction of innovative therapies, as well as the improvement of rehabilitation and multidisciplinary care. Despite these advances and therapeutic approaches, the management of 5qSMA remains challenging given the variability of clinical presentation, different assessment tools, complex and costly treatments, and the absence of management guidelines that apply to all.

Objective: The authors developed a guide to describe a common pattern of 5qSMA phenotypes and its treatment perspectives in order to obtain a rationale that covers the concept of therapeutic success with the follow-up steps and the perspective of benefit, which have not yet been clearly established in the academic literature.

Methods: In an innovative way, the six specialists in neurology and neuropediatrics got together to discuss and define what can be considered a therapeutic success and its implications in 5qSMA. The authors belong to specialized reference centers for 5qSMA management and represent six Brazilian States.

Results: Treatment choice in 5qSMA may consider the clinical condition, the environment and social context of patients and families, as well as access to treatment. The physician should consider these factors and talk to the families so that a therapeutic decision can be reached based on continuity and adherence to treatment. Despite no cure available to date to 5qSMA, the concept of therapeutic success in those patients is directly related to the achievement of one or more goals outlined individually, which may support the follow-up of treatment outcomes, thus setting the correct expectations for both multidisciplinary teams and patients/families. Based on this, the authors outlined the benefit perspectives, objectives, and desired assessment time windows for different SMA types under treatment.

Conclusion: Patients with the same diagnosis may have similar treatment strategies, but never the same considering their gains and needs, so physicians should discourage unrealistic comparisons between patients and families. Providing minimally sufficient information and parameters so that professionals can better assess different patients, outline individualized objectives, ground the therapeutic choices, and monitor their patients in a planned way, considering the involvement of family and caregivers is ultimately aimed at optimizing overall treatment outcomes.

Publication History

Article published online:
12 May 2025