Spinal muscular atrophy overview

Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS

Overview
Spinal muscular atrophy is the commonest genetic cause of infant mortality. It is an autosomal recessive (95-98%) neuromuscular disorder, caused by loss of survival motor neuron gene (SMN1 gene). It is primarily a pediatrics disorder resulting from degeneration of anterior horn cells (lower motor neurons) in spinal cord and brain stem nuclei. It is characterized by progressive muscle weakness predominantly affecting the proximal muscles. Though the disease is still considered to be incurable, recent advancements in the field of molecular genetic have helped in understanding the pathogenesis and raised hope for a cure in future.