Abstract:

To explore the clinical efficacy of nusinersen in treating presymptomatic 5q spinal muscular atrophy (SMA). The relevant clinical data, from a baby with presymptomatic 5q SMA were retrospectively collected, and a comprehensive analysis was made based on the existing literature. A 10-month-old girl got MLPA examination after birth because of the family history of SMA, and the results showed the homozygous deletions of SMN1 gene exon 7 and 8 and two copies of SMN2 gene. Physical examination showed that she had normal muscle strength and tone and good motor function, and therefore she was diagnosed with presymptomatic 5q SMA. Five doses of nusinersen have been treated by intrathecal injection according to the medication plan, and no adverse reactions have been observed. The milestones of motor development are basically normal. It is suggested that nusinersen treatment during the presymptomatic stage can achieve the best effect in children with 5q SMA, and the motor development milestone is expected to reach the normal level.

Key words: 5q spinal muscular atrophy, nusinersen, clinical efficacy