Abstract:Spinal muscular atrophy is a neuromuscular disorder caused by a mutation in the survival of SMN1 gene. Diagnosis of the disease is based mainly on the presence of hypotonia and symmetrical [1]. A five-month-old male with SMA type 1 was admitted to the Children's Neurology Clinic for gene therapy with onasemnogene abeparvovec. He was diagnosed with spinal muscular atrophy in newborn screening.Neurological examination of the patient revealed abolition of deep tendon reflexes. Administration of the medication pro… Show more
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