Results 21 to 30 of about 70,643 (278)

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

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

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

PLoS ONE, 2022
Background The 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

Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report

Нервно-мышечные болезни, 2020
The spinal and bulbar muscular atrophy is a slowly progressive X-linked polysystemic disease associated with polyglutamine expansion in the androgen receptor gene. The mutant protein exhibits toxic properties towards neurons and myocytes.
E. O. Ivanova, E. Yu. Fedotov, S. N. Illarioshkin   +2 more
doaj   +1 more source

BONE HEALTH AND GROWTH IN SPINAL MUSCULAR ATROPHY TYPE 2 AND 3

İstanbul Tıp Fakültesi Dergisi, 2022
Objective: Spinal muscular atrophy is a lower motor neuron disease, but other parts of the body could be affected. This study compared bone mineral density with bone metabolism and physical growth rates in patients diagnosed with spinal muscular atrophy ...
Osman Kipoğlu, Esin Karakılıç Özturan, Orhan Coşkun, Ayşe Pınar Öztürk, Edibe Pembegül Yıldız, Firdevs Baş, Nur Aydınlı, Meliha Mine Çalışkan   +7 more
doaj   +1 more source

Safety and Tolerability of Strength Training in Spinal and Bulbar Muscular Atrophy: A Case Report

Journal of Rehabilitation Medicine - Clinical Communications, 2022
Objective: Spinal and bulbar muscular atrophy is characterized by slow-progressive muscle weakness, decreased functional performance and falls. Research into the use of exercise in spinal and bulbar muscular atrophy has shown equivocal to negative ...
Vincent Shieh, Cris Zampieri, Paul Stout, Galen O. Joe, Angela Kokkinis, Kenneth H. Fischbeck, Christopher Grunseich, Joseph A. Shrader   +7 more
doaj   +1 more source

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy [PDF]

, 2018
Deafferentation of motor neurons as a result of defective sensory-motor connectivity is a critical early event in the pathogenesis of spinal muscular atrophy, but the underlying molecular pathways remain unknown.
Boyd, Penelope J., Gillingwater, Thomas H., Groen, Ewout J. N., Lamont, Douglas J., Llavero Hurtado, Maica, Schiavo, Giampietro, Shorrock, Hannah K., Sleigh, James N., van der Hoorn, Dinja, Wirth, Brunhilde, Wishart, Thomas M.   +10 more
core   +6 more sources

Lethal Cardiac Complications in a Long-Term Survivor of Spinal Muscular Atrophy Type 1 [PDF]

Kosin Medical Journal, 2019
Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in hypotonia, progressive proximal muscle weakness, paralysis ...
Min-Jung Cho
doaj   +1 more source