Wider perspective on Spinal Muscular Atrophy – pathogenesis, diagnosis, treatment

Introduction and Objective.Spinal muscular atrophy (SMA) is an autosomal recessive inherited disease that leads to the atrophy or weakening of skeletal muscles and changes in the brainstem.It is the second most common cause of infant mortality worldwide, with a prevalence ranging from about 1 in 6,000 to 1 in 10,000 live births.The cause of the disease is the presence of mutations in the survival motor neuron 1 (SMN1) gene on chromosome 5q11.2 to 13.3.The aim of this review is to summarize and compile the current state of knowledge on SMA, including its pathogenesis, diagnosis and treatment.Review Methods.The review is based on scientific publications found in the PubMed, Scopus, and Google Scholar databases, published between 2018-2024.Brief description of the state of knowledge.Genetic testing for SMA is the most accurate method, demonstrating a 100% positive predictive value.To determine disease severity, the number of SMN2 gene copies is analyzed, while carrier detection involves analyzing copies of the SMN1 gene.Clinical trials evaluated using the HFMSE scale demonstrated significant improvements in motor function with risdiplam, apitegromab, and nusinersen.Onasemnogene abeparvovec was assessed using the CHOP INTEND scale, also showed improvements in motor function.Summary.Treating SMA presents a significant challenge for doctors, as selecting the appropriate therapy and timing its introduction are crucial.Currently, the FDA-approved drugs include nusinersen, onasemnogene abeparvovec, and risdiplam.