Eurasian Journal of Medical and Natural Sciences 5-jild 3-son (2025) · 65–69-betlar
SPINAL MUSCULAR ATROPHY: MODERN CONCEPTS OF PATHOGENESIS, DIAGNOSIS, AND TREATMENT
Эргашева, Н.Н., Темирова, М.К., Нурматова, Х.Д.
Annotatsiya
Spinal muscular atrophy (SMA) is a significant medical and social problem and one of the most common causes of childhood mortality due to hereditary neuromuscular diseases. SMA is an inherited motor neuron disease characterized by progressive muscle weakness and atrophy. It is one of the most frequent autosomal recessive neuromuscular disorders, with an incidence of 1:6000 – 1:10000 newborns, while the carrier frequency of the mutant SMN1 gene is found in 1 in 40–50 individuals in the population (Verhaart et al., 2017). Until recently, the disease was considered incurable; however, the emergence of new therapeutic approaches has significantly improved patient prognosis.
SMA, motor neuron, atrophy, mutation, gene, degeneration.СМА, мотонейрон, атрофия, мутация, ген, дегенирация.
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