Neurol. praxi. 2021;22(2):114-120 | DOI: 10.36290/neu.2020.120
Spinal muscular atrophy - first experiences with nusinersen therapy in Slovakia
- 1 Klinika detskej neurológie LF UK a NÚDCH, Bratislava
- 2 II. detská klinika SZU, DFNsP, Banská Bystrica
- 3 Detské neurologické oddelenie, DFN, Košice
Spinal muscular atrophy (SMA) is a motor neuron disorder due to SMN protein deficiency. Up to 95 % of cases are the homozygous deletion in the SMN1 gene located in the 5q13 region. The characteristic feature of the disease is predominantly proximal muscle weakness and the normal intellect of children. In 2017 was nusinersen approved for SMA therapy, it is a member of the antisense nucleotide family. Nusinersen was administered in Slovakia in August 2018 and so far, 43 patients of all SMA types have been treated in three centers: Bratislava, Banská Bystrica and Košice.
Keywords: spinal muscular atrophy, diagnostics, treatment, nusinersen, care management.
Received: October 2, 2020; Revised: November 23, 2020; Accepted: November 23, 2020; Prepublished online: November 23, 2020; Published: April 30, 2021 Show citation
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Kolníková M, Viestová K, Balážová P, Okáľová K, Trúsiková E, Lazarová E, Čižmár J. Spinal muscular atrophy - first experiences with nusinersen therapy in Slovakia. Neurol. praxi. 2021;22(2):114-120. doi: 10.36290/neu.2020.120.
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