Diagnosis and Dynamic Monitoring of Adult Patients with SMA
Spinal muscular atrophy (SMA) is a hereditary disease associated with the degeneration of motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy. The relevance of SMA as a medical and socially significant issue is extremely high due to the severity of the disease, the high carrier frequency, the availability of effective treatment with early diagnosis, the need for governmental and social support, and the importance of disease prevention.
SMA is one of the most common causes of genetically determined mortality in young children. However, in adults, the disease is often diagnosed late — the delay in diagnosis can reach up to 9 years. Progression leads to muscle weakness, limited active movement, loss of independent walking, and reduced autonomy. On average, an adult with SMA loses 0.5 to 1 functional point per year — making early diagnosis crucial.
Until recently, SMA was considered virtually incurable. However, since 2016, effective therapies have become available, significantly improving patients’ quality of life.
The Department of Nervous Diseases at the S.D. Asfendiyarov Kazakh National Medical University continues a series of educational events for practical healthcare professionals, dedicated to the 95th anniversary of the university and the 90th anniversary of Professor S.K. Kaishybayev’s legacy.
On June 24, 2025, in the city of Semey, an educational seminar was held as part of the cascade training method for healthcare professionals, in accordance with the Roadmap for Improving Neurological Medical Care for the Adult Population by the Ministry of Health of the Republic of Kazakhstan for 2025–2027 (No. 03324 dated January 23, 2025). The event was supported by the NGO “Association of Neurologists” of the Republic of Kazakhstan, the chief freelance neurologist of Semey, R.F. Orazgalieva, and the head of the city’s stroke service, G.A. Alibaeva.
The seminar was conducted at the City Clinical Hospital of Semey and focused on current issues in the diagnosis and treatment of SMA. Over 47 physicians from various medical institutions in the city and region participated. The seminar served as a platform for professional dialogue and experience exchange among neurologists and specialists from related disciplines.
Leading specialists and invited experts delivered presentations based on the latest scientific data and clinical research. Among the guest speakers were Professor G.A. Mukhametova and Associate Professor R.B. Nurzhanova from the Department of Nervous Diseases at KazNMU.
Key topics of the seminar included:
- Main diagnostic criteria for SMA
- Possibilities for comprehensive treatment and rehabilitation
- Monitoring of adult patients with spinal muscular atrophy using international clinical scales such as RULM (Revised Upper Limb Module), HFMSE (Hammersmith Functional Motor Scale Expanded), and 6MWT (6-Minute Walk Test)
Special attention was given to the development of practical skills in assessing motor function in adult SMA patients.
The seminar generated strong interest among the regional medical community and marked an important step toward raising awareness of rare genetic diseases, improving early diagnosis, and strengthening interdisciplinary collaboration.
The organizers express their sincere gratitude to all participants and experts for their high level of engagement and commitment to professional development.
