Spinal Muscular Atrophy in the Treatment Era.

Activities of Daily Living Adolescent Adult Female Gene Transfer Techniques / trends Humans Infant Infant, Newborn Male Muscular Atrophy, Spinal / diagnosis Neonatal Screening / methods Oligonucleotides / therapeutic use
Multidisciplinary care Newborn screen Nusinersen Onasemnogene abeparvovec-xioi Spinal muscular atrophy

Journal

Neurologic clinics
ISSN: 1557-9875
Titre abrégé: Neurol Clin
Pays: United States
ID NLM: 8219232

Informations de publication

Date de publication:
08 2020
Historique:
entrez: 25 7 2020
pubmed: 25 7 2020
medline: 18 11 2020
Statut: ppublish

Résumé

Spinal muscular atrophy is an autosomal-recessive degenerative neuromuscular disease that has historically been categorized into 5 types based on the individual's best functional ability. Two rather remarkable treatments have recently been approved for commercial use, and both have markedly changed the natural history of this disease. Here the authors report several cases of individuals, ranging from infants to adults, to highlight diagnostic considerations, along with initial and long-term treatment considerations in these individuals who now have the potential for stabilization to significant improvement in functional outcomes.

Identifiants

DOI: 10.1016/j.ncl.2020.03.002 PMID: 32703464
pubmed: 32703464
pii: S0733-8619(20)30023-2
doi: 10.1016/j.ncl.2020.03.002
pii:
doi:

Substances chimiques

Oligonucleotides 0
nusinersen 5Z9SP3X666

Types de publication

Case Reports Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

505-518

Informations de copyright

Copyright © 2020 Elsevier Inc. All rights reserved.

Auteurs

Megan A Waldrop (MA)

Center for Gene Therapy, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA; Department of Neurology, The Ohio State University Wexner Medical Center, 395 West 12th Avenue, Columbus OH 43210, USA.

Bakri H Elsheikh (BH)

Department of Neurology, The Ohio State University Wexner Medical Center, 395 West 12th Avenue, Columbus OH 43210, USA. Electronic address: Bakri.Elsheikh@osumc.edu.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Réadaptation › Activités de la vie quotidienne › Spinal Muscular Atrophy in the Treatment Era.
questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Spinal Muscular Atrophy in the Treatment Era.
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Spinal Muscular Atrophy in the Treatment Era.
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Techniques de transfert de gènes › Spinal Muscular Atrophy in the Treatment Era.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Spinal Muscular Atrophy in the Treatment Era.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Spinal Muscular Atrophy in the Treatment Era.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Spinal Muscular Atrophy in the Treatment Era.
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies du motoneurone › Amyotrophie spinale › Spinal Muscular Atrophy in the Treatment Era.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Pratiques en santé publique › Dépistage de masse › Dépistage néonatal › Spinal Muscular Atrophy in the Treatment Era.
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Nucléotides › Polynucléotides › Oligonucléotides › Spinal Muscular Atrophy in the Treatment Era.