Results 11 to 20 of about 120,291 (395)

Spinal muscular atrophy and ependymoma

Saudi Journal of Medicine and Medical Sciences, 2017
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, characterized by a progressive degeneration of anterior horn cells of the spinal cord resulting in hypotonia, skeletal muscle atrophy and weakness.
Aishah Albakr, Faisal Abbas, Hosam Al-Jehani, Ahmed Ammar   +3 more
doaj   +3 more sources

Spinal Muscular Atrophy [PDF]

Neurotherapeutics, 2008
Spinal muscular atrophy (SMA) is a potentially devastating and lethal neuromuscular disease frequently manifesting in infancy and childhood. The discovery of the underlying mutation in the survival of motor neurons 1 (SMN1) gene has accelerated preclinical research, leading to treatment targets and transgenic mouse models, but there is still no ...
Maryam, Oskoui, Petra, Kaufmann
openaire   +4 more sources

Managing pregnancy in a spinal muscular atrophy type III patient in Indonesia: a case report

Journal of Medical Case Reports, 2022
Background Spinal muscular atrophy is a genetic disorder characterized by degeneration of lower motor neurons, leading to progressive muscular atrophy and even paralysis.
Cempaka Thursina Srie Setyaningrum, Indra Sari Kusuma Harahap, Dian Kesumapramudya Nurputra, Irwan Taufiqur Rachman, Nur Imma Fatimah Harahap   +4 more
doaj   +1 more source

Changes in pNFH Levels in Cerebrospinal Fluid and Motor Evolution after the Loading Dose with Nusinersen in Different Types of Spinal Muscular Atrophy

Medicina, 2023
Aim and Objectives: The objective of our retrospective study was to investigate the changes in pNFH levels in cerebrospinal fluid, which is a reliable marker of neuronal damage, after the loading dose of nusinersen in different types of spinal muscular ...
Mihaela Badina, Gabriel Cristian Bejan, Corina Sporea, Liliana Padure, Andrada Mirea, Madalina-Cristina Leanca, Mihaela Axente, Florin Petru Grigoras, Mihaela Bejan, Elena-Silvia Shelby, Elena Neagu, Daniela Adriana Ion   +11 more
doaj   +1 more source

Combined spinal-epidural anesthesia in a patient with spinal muscular atrophy type II undergoing cesarean section: A case report [PDF]

Vojnosanitetski Pregled, 2020
Introduction. Anesthetic management of a patient with spinal muscular atrophy type II, who underwent elective cesarean section with neuraxial anesthesia is presented in this case report. Case report.
Krušić Slavica, Nikolić Branka, Maglić Rastko   +2 more
doaj   +1 more source

Gene Therapy for Spinal Muscular Atrophy (SMA): A Review of Current Challenges and Safety Considerations for Onasemnogene Abeparvovec (Zolgensma)

Cureus, 2023
Spinal Muscular Atrophy (SMA) is a genetic disease that causes weakness and wasting in the voluntary muscles of infants and children. SMA has been the leading inherited cause of infant death.
Tolu Ogbonmide, Rajni Rathore, S. Rangrej, Stedrea Hutchinson, Marcia Lewis, Stephenie Ojilere, Victoria Carvalho, Irenaissia Kelly   +7 more
semanticscholar   +1 more source

Clinical characterizations of three adults with genetically confirmed spinal muscular atrophy: a case series

Journal of Medical Case Reports, 2022
Background Spinal muscular atrophy is a recessively inherited autosomal neuromuscular disorder, with characteristic progressive muscle weakness. Most spinal muscular atrophy cases clinically manifest during infancy or childhood, although it may first ...
Cempaka Thursina Srie Setyaningrum, Indra Sari Kusuma Harahap, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Ahmad Hamim Sadewa, Giga Hasabi Alkarani, Nur Imma Fatimah Harahap   +6 more
doaj   +1 more source

Spinal Muscular Atrophy Treatment in Patients Identified by Newborn Screening—A Systematic Review

Genes, 2023
Background: In spinal muscular atrophy, clinical trial results indicated that disease-modifying treatments are highly effective when given prior to symptom onset, which has prompted newborn screening programs in growing number of countries.
Karolina Aragon-Gawińska, Charlotte Mouraux, T. Dangouloff, L. Servais   +3 more
semanticscholar   +1 more source

Therapeutic decisions under uncertainty for spinal muscular atrophy: The DECISIONS-SMA study protocol.

PLoS ONE, 2022
BackgroundThe therapeutic landscape for spinal muscular atrophy has changed in the last few years, encompassing respiratory/motor function and life expectancy benefits.
Gustavo Saposnik, Paola Díaz-Abós, Victoria Sánchez-Menéndez, Carmen Álvarez, María Terzaghi, Jorge Maurino, María Brañas-Pampillón, Ignacio Málaga   +7 more
doaj   +2 more sources

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial

Nature Medicine, 2022
Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular atrophy (SMA) type 2. SPR1NT (NCT03505099), a Phase III, multicenter, single-arm trial, investigated the efficacy and safety of onasemnogene abeparvovec for ...
K. Strauss, M. Farrar, F. Muntoni, K. Saito, J. Mendell, L. Servais, H. McMillan, R. Finkel, K. Swoboda, J. Kwon, C. Zaidman, C. Chiriboga, S. Iannaccone, J. Krueger, J. Parsons, P. Shieh, S. Kavanagh, M. Wigderson, S. Tauscher‐Wisniewski, B. McGill, T. Macek   +20 more
semanticscholar   +1 more source