Results 31 to 40 of about 6,101 (249)

Longitudinal Efficacy of Nusinersen Treatment on Health-Related Quality of Life and Independence in Children With Later-Onset Spinal Muscular Atrophy. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims The rising use of disease‐modifying therapy is progressively impacting the health‐related quality of life (HRQoL) of patients with spinal muscular atrophy (SMA) in their daily lives. This study aimed to evaluate the changes in HRQoL and independence in children with later‐onset SMA receiving longitudinal treatment with ...
Huang S, Jiang L, Zhou D, Yan Y, Feng Y, Yu Y, Yao M, Gao F, Mao S.   +8 more
europepmc   +2 more sources

Quality of Life in SMA Patients Under Treatment With Nusinersen [PDF]

Frontiers in Neurology, 2021
Background:Spinal Muscular Atrophy (SMA) is a severe neurodegenerative disease, characterized by progressive muscle weakness and atrophy. The approval of the antisense oligonucleotide (ASO) nusinersen now provides an effective pharmacological approach with the potential to slow down or stop disease progression with a potentially major impact on ...
Simon Witzel, Lucas Mix, Albert C. Ludolph, Albert C. Ludolph, Dorothée Lulé, Claudia D. Wurster, Zeljko Uzelac, Benedikt Winter, Heiko Graf, Sophia Platen   +9 more
openaire   +6 more sources

Do we always need to treat patients with spinal muscular atrophy? A personal view and experience

Orphanet Journal of Rare Diseases, 2021
Background We report the clinical outcomes observed in our patients with SMA type 1 or 2 receiving nusinersen, and we comment on the ethical implications of this treatment, in line with our results and those reported by Audic et al.
Caterina Agosto, Eleonora Salamon, Antuan Divisic, Francesca Benedetti, Luca Giacomelli, Aashni Shah, Giorgio Perilongo, Franca Benini   +7 more
doaj   +1 more source

Scoliosis Orthopedic Surgery Combined With Nusinersen Intrathecal Injection Significantly Improved the Outcome of Spinal Muscular Atrophy Patient: A Case Report

Frontiers in Neurology, 2022
BackgroundSpinal muscular atrophy (SMA) is an autosomal recessive disorder caused by pathogenic variation of the survival motor neuron (SMN) 1 gene. Symptoms of SMA include progressive limb muscle weakness, atrophy, and severe scoliosis. Nusinersen is an
Beiyu Xu, Cuijie Wei, Xiao Hu, Wenzhu Li, Zhen Huang, Chengli Que, Jianxing Qiu, Chunde Li, Hui Xiong   +8 more
doaj   +1 more source

Long-Term Effects of Nusinersen Combined Physiotherapy in Spinal Muscular Atrophy Type 1: A Case Study

Journal of Behçet Uz Children's Hospital, 2022
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that is characterized by generalized muscle weakness. Any study does not exist showing the results of Nusinersen and physiotherapy in SMA type 1.
Güllü Aydın Yağcıoğlu, Numan Bulut, Fatma Uğur, İpek Alemdaroğlu Gürbüz, A. Ayşe Karaduman, Öznur Yılmaz   +5 more
doaj   +1 more source

Nusinersen Administration in Spinal Muscular Atrophy Patients with Severe Scoliosis: Interlaminar Approaches at the Lumbar Level [PDF]

Annals of Child Neurology, 2020
Purpose Spinal muscular atrophy (SMA) is a genetic progressive neuromuscular disorder, and nusinersen has shown to improve its symptoms. Scoliosis is a frequent symptom in patients with SMA and complicates the intrathecal injection of nusinersen. The aim
Joo Young Song, Hyun Su Kim, Se-Jun Park, Jiwon Lee, Jeehun Lee   +4 more
doaj   +1 more source

Cone-beam computed tomography guided nusinersen administrations in adult spinal muscular atrophy patients with challenging access [PDF]

, 2022
BACKGROUND: The challenging anatomic predispositions in adult patients with spinal muscular atrophy (SMA) preclude the conventional lumbar punctures. Consequently, an introduction of alternative method for intrathecal delivery of nusinersen is required ...
Koritnik, Blaž, Kostadinova, Viktorija, Leonardis, Lea, Salapura, Vladka, Snoj, Žiga   +4 more
core   +2 more sources

Ultrasound-guided nusinersen administration for spinal muscular atrophy patients with severe scoliosis: an observational study

Orphanet Journal of Rare Diseases, 2021
Background This observational study describes our experience delivering nusinersen through lumbar puncture with real-time ultrasound guidance in spinal muscular atrophy (SMA) patients with severe scoliosis.
Jiao Zhang, Xulei Cui, Si Chen, Yi Dai, Yuguang Huang, Shuyang Zhang   +5 more
doaj   +1 more source

Nusinersen for SMA: expanded access programme [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2018
BackgroundSpinal muscular atrophy (SMA) is a devastating motor neuron disorder causing progressive muscle weakness and respiratory insufficiency. We present the initial Australian experiences implementing the expanded access programme (EAP) to enable preapproval access to nusinersen, the first disease-modifying therapy, for SMA type 1.MethodsAn ...
Farrar, MA, Teoh, HL, Carey, KA, Cairns, A, Forbes, R, Herbert, K, Holland, S, Jones, KJ, Menezes, MP, Morrison, M, Munro, K, Villano, D, Webster, R, Woodcock, IR, Yiu, EM, Sampaio, H, Ryan, MM   +16 more
openaire   +4 more sources

Treatment with nusinersen in a girl with spinal muscular atrophy type 1 - Case report

Zdravniški Vestnik, 2020
We report the case of a girl with spinal muscular atrophy (SMA) type 1, who is the first patient with SMA in Slovenia treated with nusinersen, the first disease modifying therapy available for these patients.
Tanja Loboda, Tita Butenko, Tanja Golli, Damjan Osredkar   +3 more
doaj   +1 more source