Atrofia muscular espinal infantil ligada al GEN SMN2. Reporte de caso

Abstract

Antecedents: Spinal muscular atrophy is a rare inherited disorder caused by a mutation in motor neuron survival genes, affecting the lower alpha motor neurons. It can present from birth to adulthood, being more aggressive and with a poor prognosis in the early stages. Case description: A 4-year-old female patient comes for consultation due to regression of developmental milestones from the age of one year. In addition to the case, a deficit of head support and gait ataxia of several years of evolution was observed, with muscle weakness in all four extremities since she was 12 months old. Conclusion: Spinal muscular atrophy is an autosomal recessive pathology with variable incidence and prevalence. It mainly affects pediatric patients, presenting the highest mortality rates. As a neurodegenerative disorder, it is usually presented with hypotonia, generalized muscle weakness, and areflexia. Treatment is multidisciplinary, based mainly on gene therapy and physiotherapy, depending on the type of muscular atrophy diagnosed. Furthermore, the earlier treatment is established, the better the patient’s survival.