To Identify High-Risk Adolescent and Adult Spinal Muscular Atrophy Populations: Exploration of Methods and Perspectives

Abstract

Spinal muscular atrophy(SMA)is a rare genetic neuromuscular disease characterized by significant clinical heterogeneity among patients. According to the severity and progression rate of the condition, the disease is classified into five types. In recent years, because of the promotion of multidisciplinary management and the application of disease-modifying therapies, the prognosis of SMA patients has significantly improved, resulting in more patients entering into the stage of adolescence and adulthood. The varying conditions of different types of patients in the adolescence and adulthood make the manifestations more complex and diverse, leading to the difficulty in identification and diagnosis. Because of the vast territory and large population in China, coupled with uneven health care development among different regions of the country, the diagnosis and treatment for adolescent and adult SMA patients are very challenging. Misdiagnosis or delayed diagnosis remains a primary unresolved issue for many patients. The fact that patients have to visit various departments in their initial consultation highlights the importance of enhancing the recognition of high-risk adolescent and adult SMA populations among the non-neuromuscular specialists. This article attempts to explore a simple, clear, and highly operational "portrait" way of identifying the high-risk adolescent and adult SMA patients in the population, aiming at assisting the non-neuromuscular specialists to diagnose SMA patients in a way of early recognition and diagnosis and to ensure patients receiving standardized treatment as early as possible. The ultimate goal is for the higher clinical gain and a better life for patients and their families.

Keywords

• spinal muscular atrophy
• adolescents
• adults
• high-risk group
• early recognition
• early diagnosis and treatment