neurologic disorders
Spinal Muscular Atrophies (SMAs)
Treatment of SMAs
Supportive care Nusinersen,onasemnogene abeparvovec-xioi, orrisdiplam There is no cure. Treatment of spinal muscular atrophies is mainly supportive. Physical therapy, braces, and special appliances can benefit patients with static or slowly progressive disease by preventing scoliosis and contractures. Adaptive devices available through physical and occupational therapists may improve children’s independence and self-care by enabling them to feed themselves, write, or use a computer. Nusinersenis an antisense oligonucleotide that modulates premessenger RNA splicing of the survival motor neuron 2 (SMN2) gene; this drug may marginally improve motor function and delay disability and death. gene to motor neuron cells. A one-time, single dose of the drug is given over 1 hour by IV infusion. In a study involving 15 children, some achieved motor milestones, including sitting unassisted, feeding orally, rolling over, and walking independently ( Treatment references ). Serious liver injury is a potential risk. , a motor neuron 2 (SMN2)–splicing modifier, can be used to treat spinal muscular atrophy in patients ≥ 2 months old. It is given as a liquid orally or through a feeding tube once a day ( Treatment references ). Fever, diarrhea, and rash were the most common adverse effects. 1.Mendell JR,, Al-Zaidy S, Shell R, et al: Single-dose gene-replacement therapy for spinal muscular atrophy.N Engl J Med377 (18):1713–1722, 2017. doi: 10.1056/NEJMoa1706198 2.Baranello G, Servais L, Day J, et al: P.353FIREFISH Part 1: 16-month safety and exploratory outcomes ofrisdiplam(RG7916) treatment in infants with type 1 spinal muscular atrophy.Neuromuscul Disord29 (supplement 1):S184, 2019, doi: https://doi.org/10.1016/j.nmd.2019.06.515 