CLİNİCAL CHARACTERİSTİCS OF CASES WİTH SPİNAL MUSCULAR ATROPHY

Introduction: Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease and is one of the leading genetic causes of infantile hypotonia. This study aims to evaluate the clinical features of cases with a diagnosis of SMA. Materials and Methods: Twenty-four pediatric patients followed in Eskişehir Osmangazi University Faculty of Medicine, pediatric neurology department were evaluated retrospectively. The diagnosis of SMA was confirmed by the detection of homozygous deletions in the Survival Motor Neuron 1 (SMN1) gene in the medical genetics laboratory. All patients' histories, physical examinations, pre-and post-treatment motor function measurements were investigated. Results: The study population consisted of 12 girls (50%) and 12 boys (50%). According to the SMA classification, 13 patients (54.16%) were type-1, 8 (33.33%) type-2 and 3 (12.5%) type-3. The mean age of type-1 patients was 53.1±23.4 months (range:6-89 months), and the mean age of type-2 and type-3 patients was 122.8±61.3 months (range:53-236 months) was. The mean age of type-1 patients at the start of treatment is 10.5±9.4 months (range:2-36 months), and type-2 and type-3 patients are 87.7±66.2 months (range:19-204 months) was. The mean CHOP-INTEND score of SMA type-1 patients before Nusinersen sodium treatment was 18±16.2, while it was 25.3±17.1 after the 4th dose. While the mean Hammersmith Functional Motor Scale was 25±16.0 in type-2 and type-3 patients before Nusinersen sodium treatment, it was 33.6±18.1 after the 4th dose. Conclusions: SMA is a neuromuscular disease caused by deletions or mutations in the SMN1 gene. Early diagnosis has an important role in the effectiveness of treatments.