2021 年 38 巻 3 号 p. 388-390
Spinal Muscular Atrophy (SMA) is an autosomal recessive lower motor neuron degenerative disease. About 90% of patients do not produce normal SMN protein due to deletion of the SMN1 gene. Instead, SMN2 gene produces SMN protein, but when transcribed into mRNA, exon 7 is slipped by about 90%, and full–length functional SMN protein is produced by only about 10%. In July 2017, nusinersen became available as a therapeutic agent for SMA. Expected to strengthen muscle strength and maintain function. Nusinersen treatment for adult SMA patients is performed by the Department of Neurology, but there is still insufficient information regarding nusinersen for adult SMA patients. In pediatric case such as SMA type 1 or 2, a visible muscle strengthening effect such as acquisition of standing walking can be expected, but the therapeutic effect in adult SMA patients is unknown. The Department of Neurology, Kagoshima University provides this treatment to 16 adult SMA patients. HFMSE (Hammersmith functional motor scale–expanded), RULM (Revised upper limb module), respiratory function, and 6–minute walking for walkable patients are evaluated as therapeutic effect. Normal lumbar puncture is difficult for patients who have severe scoliosis or surgery for scoliosis. In such case, cooperation with other departments such as orthopedics and anesthesiology is required. There is little information on long–term effects, but patients have high expectations.