Spinal Muscular Atrophy

Spinal muscular atrophies (SMA) result in progressive degeneration of the anterior horn cells. Most patients present in infancy and childhood but later presentations are known. The condition is inexorably progressive and reduces the quality and span of life. Survival motor neuron gene abnormalities are most common but other genetic abnormalities have been recognized. The therapy is largely supportive at this time. Nusinersen (an antisense oligonucleotide), Onasemnogene (gene replacement therapy), and now, Risdiplam (oral SMN2 splicing modifier) have recently been approved for the treatment of SMA.