Results 61 to 70 of about 1,977 (181)

Non-Invasive Spinal Cord Stimulation for Motor Rehabilitation of Patients with Spinal Muscular Atrophy Treated with Orphan Drugs

Biomedicines
Spinal muscular atrophy (SMA) is an orphan disease characterized by the progressive degeneration of spinal alpha motor neurons. In recent years, nusinersen and several other drugs have been approved for the treatment of this disease.
Anton Novikov, Maria Maldova, Natalia Shamantseva, Ivan Shalmiev, Elena Shoshina, Natalia Epoyan, Natalia Krutikova, Tatiana Moshonkina   +7 more
doaj   +1 more source

The Illness Narratives of Children and Young People With Spinal Muscular Atrophy: A Scoping Review

Journal of Advanced Nursing, Volume 82, Issue 9, Page 8375-8390, September 2026.
ABSTRACT Aim(s) This review seeks to explore the illness narratives of children and young people focusing on their healthcare trajectories; the right to health; and the kind of stories told about them. Design This scoping review adopts a narrative approach to analyse how the illness experience of Spinal Muscular Atrophy is represented in the literature,
Marcela González‐Agüero, Constanza Quezada, Valentina Turén, Josefa Camelio, Martina De Filippi, Caroline Bradbury‐Jones, Julie Taylor   +6 more
wiley   +1 more source

ยารับประทาน Risdiplam ทางเลือกของการรักษาโรคกล้ามเนื้ออ่อนแรง Risdiplam in Spinal Muscular Atrophy (SMA): Therapeutic Alternatives [PDF]

บทคัดย่อ Risdiplam ยารับประทานชนิดแรกที่พัฒนาขึ้นเพื่อรักษาโรคกล้ามเนื้ออ่อนแรง (Spinal Muscular Atrophy; SMA) ออกฤทธิ์โดยปรับเปลี่ยนกระบวนการตัดต่อ mRNA (splicing) ของยีน survival motor neuron 2 (SMN2) ทำให้ร่างกายสามารถสร้างโปรตีน SMN ที่สมบูรณ์และม ...
Puangpoemsin, Narumon, Sirisuksan, Vimonkarn   +1 more
core  

Biological markers in predicting the course of spinal muscular atrophy and their importance in organizing medical care

Якутский медицинский журнал
А correlation between the levels of blood biomarkers and clinical manifestations of SMA in patients of the main regional healthcare institution of the Samara region was carried out.
A. Ya. Gaiduk, T. S. Syunyakov, A. V. Gazheva, E. F. Makhanova, Ya. V. Vlasov   +4 more
doaj   +1 more source

Glymphatic Dysfunction in Children With Type 2 and 3 Spinal Muscular Atrophy

CNS Neuroscience &Therapeutics, Volume 32, Issue 8, August 2026.
This study reveals glymphatic dysfunction in children with spinal muscular atrophy (SMA), characterized by increased cerebrospinal fluid volume and reduced ALPS index. These alterations correlate with clinical severity, identifying glymphatic dysfunction as a previously unrecognized feature of SMA pathophysiology.
Shasha Lan, Pei Xiang, Cui Yan, Huirong Nie, Huan Wang, Boyan Xu, Zhiyun Yang, Wen Tang, Yijuan Li, Yujian Liang, Yingqian Chen   +10 more
wiley   +1 more source

Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross‐Sectional Observational Study

Clinical Genetics, Volume 110, Issue 2, Page 172-188, August 2026.
This study describes the clinical heterogeneity of Brazilian patients with 5q spinal muscular atrophy types 2 and 3, highlighting prolonged diagnostic delays and the impact of disease duration on motor function. Early genetic diagnosis and access to multidisciplinary care are crucial to preserve functional outcomes.
Elice Carneiro Batista, Edmar Zanoteli, Henrique Andrade R. Fonseca, Graziela Jorge Polido, Jonas Alex Morales Saute, Adriana Banzzatto Ortega, Marcondes Cavalcante França Junior, Acary Souza Bulle Oliveira, Paulo Victor Sgobbi de Souza, Juliana Gurgel Giannetti, André Luiz Santos Pessoa, Alexandra Prufer de Queiroz Campos Araújo, Mário Fritsch Toros Neves, Raquel Tavares Boy da Silva, Frederico Monfardini, Gustavo Prado dos Santos, Bruna dos Santos Sampaio, Diogo Fagundes Moia, Fernando Galan Júnior, Luciana Pereira Almeida de Piano, Camila Santos Nascimento de Albuquerque, Flávia Miranda Duarte, Viviane Aparecida Rodrigues Sant’Anna, Mariane Pereira, Jomenica de Bortoli Livramento, Ronaldo Vicente Pereira Soares, Denison Alves Pedrosa, Vanessa Teich, Luiz Vicente Rizzo, Otávio Berwanger, João Brainer Clares de Andrade, Gisele Sampaio Silva   +31 more
wiley   +1 more source

Data from: Adverse events associated with risdiplam use

<p>Risdiplam is a new drug for treating spinal muscular atrophy (SMA). However, pharmacovigilance analyses are necessary to objectively evaluate its safety—a crucial step in preventing severe adverse events (AEs). Accordingly, the primary objective
Liu, Limei
core   +1 more source

Therapeutic advances in spinal muscular atrophy: a review of clinical, safety, and economic considerations

Frontiers in Pharmacology
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by insufficient levels of survival motor neuron (SMN) protein due to mutations in the SMN1 gene, leading to progressive degeneration of lower motor neurons in the spinal cord.
Andrej Belančić, Elvira Meni Maria Gkrinia, Yun Wah Lam, Dinko Vitezić   +3 more
doaj   +1 more source

Nationwide Epidemiology of Motor Neuron Diseases in Latvia (2020–2024): Incidence, Prevalence, and Clinical Characteristics

European Journal of Neurology, Volume 33, Issue 8, August 2026.
This first nationwide study of motor neuron diseases (MNDs) in Latvia provides epidemiological and clinical data about 181 patients identified with motor neuron diseases during a 5‐year observational period revealing lower incidence and prevalence rates compared to other European countries.
Vladimirs Krutovs, Arta Grosmane, Renāte‐Ruta Kažmere, Marija Roddate, Gundega Ķauķe, Diāna‐Patrīcija Grosa, Signe Šetlere, Mikus Dīriks, Guntis Karelis, Viktorija Ķēniņa   +9 more
wiley   +1 more source

Real-world pharmacoclinical implementation of risdiplam under a national SMA protocol: A hospital pharmacy registry-based case series

Pakistan Journal of Pharmaceutical Sciences
Background: Spinal muscular atrophy (SMA) is a rare neuromuscular disorder treated with disease-modifying therapies such as risdiplam. In Spain, its use is regulated by a national pharmacoclinical protocol that requires structured monitoring. Objectives:
Roberto Lozano, Aragn Health Service, Zaragoza, Spain   +3 more
doaj   +1 more source