JOURNAL
Spinal muscular atrophy: diagnosis, treatment, and rehabilitation
About the Authors
Shaizadinova M.Z. – Senior nurse department №2 «Kadam» of NJSC "National Center for Children's Rehabilitation", Astana, Kazakhstan
Tleulinova R.R. – Director of Nursing of NJSC "National Center for Children's Rehabilitation", Astana, Kazakhstan
Dametova M.B. – №2 department nurse of NJSC "National Center for Children's Rehabilitation", Astana, Kazakhstan
Tanibergenova K.A. – №2 department nurse of NJSC "National Center for Children's Rehabilitation", Astana, Kazakhstan
Ospanova T.K. – №2 department nurse of NJSC "National Center for Children's Rehabilitation", Astana, Kazakhstan
Kadyrbekova K.B. – №2 department nurse of NJSC "National Center for Children's Rehabilitation", Astana, Kazakhstan
Аbstract
The article discusses modern approaches to the diagnosis, treatment and rehabilitation of patients with spinal muscular atrophy (SMA). This rare neurodegenerative disease caused by a mutation in the SMN1 gene leads to progressive muscle weakness and loss of motor function. The latest therapies, including antisense therapy, gene technologies, and assistive therapies, are analyzed. Special attention is paid to the role of nurses in patient care, their participation in condition monitoring, rehabilitation activities and education of patients' families. The key aspects of social adaptation, accessibility of educational programs and employment of patients with various types of diseases are considered.
Keywords
Spinal muscular atrophy, diagnosis, treatment, gene therapy, rehabilitation, nursing care, physiotherapy, social adaptation, inclusive education, medical support.
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