Results 31 to 40 of about 6,290 (252)

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

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

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

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

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

Current evidence for treatment with nusinersen for spinal muscular atrophy : a systematic review [PDF]

, 2019
Recent discovery of nusinersen, an antisense oligonucleotide drug, has provided encouragement for improving treatment of spinal muscular atrophy. No therapeutic options currently exist for this autosomal recessive motor neuron disorder.
Meylemans, Antoon, De Bleecker, Jan
core   +1 more source

Improvement in Fine Manual Dexterity in Children with Spinal Muscular Atrophy Type 2 after Nusinersen Injection: A Case Series

Children, 2021
Although nusinersen has been demonstrated to improve motor function in patients with spinal muscular atrophy (SMA), no studies have investigated its effect on fine manual dexterity.
Minsu Gu, Hyun-Ho Kong
doaj   +1 more source

Myostatin Levels in SMA Following Disease-Modifying Treatments: A Multi-Center Study. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Piemonte F, Petrillo S, Capasso A, Coratti G, D'Amico A, Catteruccia M, Pera MC, Palermo C, Pane M, Abiusi E, Cicala G, Villa M, Bravetti C, Arpaia C, Novelli A, Falqui S, Fiori S, Napoli G, Baroni S, Tiziano FD, Bertini E, Comi G, Corti S, Mercuri E.   +23 more
europepmc   +2 more sources

Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening [PDF]

, 2018
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy.
Connolly, Anne, Crawford, Thomas O, Darras, Basil, Day, John, Finkel, Richard, Glascock, Jacqueline, Haidet-Phillips, Amanda, Howell, R. Rodney, Jarecki, Jill, Ker, Douglas, Klinger, Katherine, Kuntz, Nancy, Prior, Thomas, Sampson, Jacinda, Shieh, Perry B   +14 more
core   +2 more sources