脊髄性筋萎縮症のnusinersen治療の実際
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- 橋口 昭大
- 鹿児島大学病院 脳・神経センター 脳神経内科
書誌事項
- タイトル別名
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- Actual treatment with nusinersen of spinal muscular atrophy
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説明
<p>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.</p>
収録刊行物
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- 神経治療学
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神経治療学 38 (3), 388-390, 2021
日本神経治療学会
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キーワード
詳細情報 詳細情報について
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- CRID
- 1390853730216792448
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- NII論文ID
- 130008142729
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- ISSN
- 21897824
- 09168443
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- 本文言語コード
- ja
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- データソース種別
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- JaLC
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可
