On May 14, 2026, the educational seminar \u201cModern Principles of Diagnosis and Treatment of Certain Orphan Diseases in Neurology\u201d took place at the Emergency Hospital of Semey.<\/p>\n
The event was organized by:<\/p>\n
The seminar coordinator was the chief freelance neurologist of the regional healthcare department, Rozagaliyeva R.F.<\/p>\n
The aim of the seminar was to improve the qualifications of practicing physicians, implement modern international protocols, and enhance the patient referral system for individuals with rare (orphan) diseases in the region.<\/p>\n
The seminar program covered the most pressing issues in modern neurogenetics and neurology:<\/p>\n
Spinal Muscular Atrophy (SMA): Practical Tools: Myasthenia Gravis: The Role of Primary Healthcare: As a result of the seminar, 26 practicing specialists from the region successfully completed the training. All participants received official certificates of non-formal education issued by the Institute of Continuing Professional Education of Asfendiyarov Kazakh National Medical University, confirming the acquisition of new clinical competencies.<\/p>\n The seminar concluded with an open discussion session. Participants had the opportunity to ask questions to leading \u043f\u0440\u043e\u0444\u0438\u043b\u044c\u043d\u044b\u0435 specialists of Kazakhstan, discuss complex clinical cases from practice, and coordinate cooperation between regional hospitals and \u043f\u0440\u043e\u0444\u0438\u043b\u044c\u043d\u044b\u0435 academic departments.<\/p>\n Such educational initiatives enable the rapid implementation of advances in medical science into regional healthcare practice, making innovative medical care accessible to every patient.<\/p>\n\n\t\t
\n<\/strong>\u00a0Professor of the Department of Nervous Diseases, Mukhambetova G.A., presented a report on revolutionary advances in SMA therapy. The expert emphasized that with the emergence of pathogenetic treatment, this severe disease is no longer considered a life sentence for patients.<\/p>\n
\n<\/strong>\u00a0A practical session was conducted on the use of specialized assessment scales. These scales are critically important for monitoring the condition of patients with SMA and evaluating the effectiveness of ongoing therapy.<\/p>\n
\n<\/strong>\u00a0Head of the Department of Nervous Diseases, Turuspekova S.T., provided a detailed overview of modern diagnostic algorithms and new approaches to the treatment of myasthenia gravis, with special attention given to the clinical course and treatment of the juvenile form of the disease in children.<\/p>\n
\n<\/strong>\u00a0Professor Mukhambetova G.A. also addressed issues related to the long-term follow-up of orphan disease patients at the primary healthcare level and presented clear referral algorithms to ensure timely access to high-tech medical care.<\/p>\nOutcomes and Results<\/strong><\/h3>\n