Abstract
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes atrophy and weakness of limbs and bulbar muscles. The deletion of gene SMN1 in locus 5q13 produces the disease; SMN2 is a paralogous gene that codifies for a small amount and is a less functional protein. Nusinersen is an antisense oligonucleotide that helps to create a functional Survival Motor Neuron protein (SMN). We administered intrathecal Nusinersen to five patients with SMA types 2 and 3. The motor function through MFM32 Scale, pulmonary and bulbar function was assessed before and after Nusinersen administration. Nusinersen appears to improve MFM32 scores and has a safe effect profile.
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Dr. Maria Elena Meza-Cano: main author and edition. Dr. Alejandro Almaraz-Espinoza: edition.
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Meza, M.E., Almaraz-Espinoza, A. Clinical Experience with Disease-Modifying Therapies in Adolescent and Adult Patients with Spinal Muscular Atrophy Type 2 and Type 3 in Mexico: Case Report. SN Compr. Clin. Med. 4, 208 (2022). https://doi.org/10.1007/s42399-022-01217-x
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DOI: https://doi.org/10.1007/s42399-022-01217-x