The Department of Nervous Diseases at S.D. Asfendiyarov Kazakh National Medical University continues its series of educational events dedicated to the university’s 95th anniversary and the 90th anniversary of the memory of Professor S.K. Kaishibayev. On June 17, 2025, a master class was held in the city of Aktau as part of the cascade training method for practical healthcare professionals. The event was implemented in accordance with the Roadmap for Improving Neurological Care for the Adult Population of the Ministry of Health of the Republic of Kazakhstan for 2025–2027 (No. 03324 dated January 23, 2025). The session was supported by the “Association of Neurologists” of the Republic of Kazakhstan, the Health Department of the Mangystau Region, and the Mangystau Regional Multidisciplinary Hospital.
The master class was conducted by Professor G.A. Mukhambetova and Associate Professor R.B. Nurzhanova from the Department of Nervous Diseases at KazNMU. During the event, participants were introduced to the key diagnostic criteria for spinal muscular atrophy (SMA), as well as the possibilities for comprehensive treatment, rehabilitation, and long-term monitoring of adult patients with SMA using international clinical assessment tools, including the Revised Upper Limb Module (RULM), Hammersmith Functional Motor Scale Expanded (HFMSE), and the 6-Minute Walk Test (6MWT). The educational program aimed to enhance the qualifications of physicians working with patients suffering from rare neurological diseases. Particular focus was given to modern approaches in evaluating motor function, planning therapy, and monitoring treatment effectiveness.
The management of adult patients with SMA is gaining increasing importance in today’s neurological and multidisciplinary practice. This growing relevance is driven by several factors. Advances in early diagnosis and the introduction of effective disease-modifying therapies—such as nusinersen, risdiplam, and onasemnogene abeparvovec—have significantly improved life expectancy, particularly for individuals with SMA types I and II. As a result, more patients are living into adulthood, necessitating a transition in care from pediatric to adult services.
However, adult healthcare systems have not always been fully prepared for this shift. Historically seen as a pediatric disorder, SMA often leaves adult patients “in the gap” following adolescence, without structured continuity of care between pediatric and adult neurologists. This can lead to disruptions in medical supervision, deterioration in clinical condition, and the loss of previously achieved functional progress.
In adults, the clinical course of SMA tends to differ from that in children. Disease progression is slower but still marked by a steady decline in function, along with orthopedic complications, respiratory impairments, and decreased endurance. There is often a psychological and emotional burden due to social isolation and reduced quality of life. These unique challenges call for a systematic and holistic monitoring approach, including the use of validated international functional scales, regular assessment of respiratory function, digestive health, nutritional status, pain levels, and psychosocial adaptation. Effective care requires the involvement of a multidisciplinary team including neurologists, pulmonologists, orthopedists, nutritionists, psychologists, and other specialists.
Access to treatment remains a critical issue, with many adult patients still facing barriers due to age, disease stage, or insufficient physician awareness. Nonetheless, adults have the same right to full-scale care and therapy as pediatric patients. Social and vocational rehabilitation is also vital. Given the chronic nature of SMA, support must go beyond medical treatment to include assistance with education, employment, accessible environments, personal development, and mental well-being.
Participants in the master class emphasized that the training marked a significant step forward in strengthening expert care for adults with SMA in Kazakhstan. “We not only mastered international assessment tools,” one attendee shared, “but also discussed how to apply them in real-world clinical settings. This will allow us to more accurately track disease progression and tailor treatment strategies to each patient.” The knowledge gained from the session is expected to be incorporated into the practice of specialized medical centers and form the basis for a multidisciplinary approach to adult SMA care across the country.