Results 31 to 40 of about 19,843 (235)

Anaesthetic management of spinal muscular atrophy in a patient with pneumothorax: a case report

Journal of the Pakistan Medical Association
One of the most prevalent hereditary neuromuscular disorders is spinal muscular atrophy (SMA). Progressive muscular weakness and an irreversible loss of alpha motor neurons in the spinal cord are the hallmarks of SMA and are associated with increased ...
Madeeha Rasheed, Khalid Ahsan
doaj   +1 more source

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   +1 more source

Cognitive performance of children with spinal muscular atrophy: A systematic review

Dementia & Neuropsychologia, 2019
Spinal muscular atrophy (SMA) is genetic and progressive, caused by large bi-allelic deletions in the SMN1 gene, or the association of a large deletion and a null variant.
Graziela Jorge Polido, Mariana Mangini Vaz de Miranda, Nelson Carvas Junior, Rodrigo de Holanda Mendonça, Fátima Aparecida Caromano, Umbertina Conti Reed, Edmar Zanoteli, Mariana Callil Voos   +7 more
doaj   +1 more source

The social-economic burden of spinal muscular atrophy in Russia

Фармакоэкономика, 2021
Introduction. Spinal muscular atrophies (SMA) are clinically and genetically heterogeneous congenital orphan diseases that lead to progressive spinal motoneurons degeneration and loss of their function. There are 4 types of SMA with type I being the most
A. S. Kolbin, D. V. Vlodavets, A. A. Kurylev, Yu. Ye. Balykina, M. A. Proskurin, S. A. Mishinova, O. Yu. Germanenko, N. Yu. Kolbina   +7 more
doaj   +1 more source

Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy [PDF]

, 2012
Background Spinal muscular atrophy (SMA) is the leading genetic cause of infant death. It is caused by mutations/deletions of the survival motor neuron 1 (SMN1) gene and is typified by the loss of spinal cord motor neurons, muscular atrophy, and in ...
Carrie L Anderson, Justin G Boyer, Lyndsay M Murray, Melissa Bowerman, Rashmi Kothary   +4 more
core   +2 more sources

Restoring Bcl-xL levels benefits a mouse model of spinal muscular atrophy

Neurobiology of Disease, 2008
Currently, no curative treatment is available for spinal muscular atrophy (SMA). Since the degeneration of spinal motor neurons in SMA is mediated by apoptosis, over-expression of an anti-apoptotic factor, Bcl-xL, may benefit SMA.
Li-Kai Tsai, Ming-Shiun Tsai, Chen-Hung Ting, Sue-Hong Wang, Hung Li   +4 more
doaj   +1 more source

Spinal muscular atrophy: Factors that modulate motor neurone vulnerability. [PDF]

, 2017
Spinal muscular atrophy (SMA), a leading genetic cause of infant death, is a neurodegenerative disease characterised by the selective loss of particular groups of motor neurones in the anterior horn of the spinal cord with concomitant muscle weakness. To
Heath, P.R., Highley, J.R., Simpson, J.E., Tu, W.Y.   +3 more
core   +1 more source

Rehabilitation in spinal muscular atrophy

The Journal of the International Society of Physical and Rehabilitation Medicine, 2019
Spinal muscular atrophy (SMA) is an autosomal recessive disorder with symptoms of progressive skeletal muscular atrophy which requires multidisciplinary medical care.
Agus Iwan Foead, Wendy Wai Yeng Yeo, Thirupathirao Vishnumukkala, Michael Larvin   +3 more
doaj   +1 more source

Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes [PDF]

, 2017
Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower motor neurons. SBMA is caused by expansions of a polyglutamine tract in the gene coding for androgen receptor (AR).
Blaauw, Bert, Borgia, Doriana, Gomes Pereira, Marcelo, Lieberman, Andrew P., Maino, Eleonora, Malena, Adriana, Marchioretti, Caterina, Milioto, Carmelo, Pegoraro, Elena, Pennuto, Maria, Pennuto, Maria, Plebani, Mario, Polanco, Maria J., Sambataro, Fabio, Sambataro, Fabio, Sorar, Gianni, Soraru', Gianni, Venturini, Roberta, Vergani, Lodovica   +18 more
core   +3 more sources

Review of Spinal Muscular Atrophy (SMA) in Brown Swiss Cattle [PDF]

Journal of Veterinary Diagnostic Investigation, 1993
Spinal muscular atrophy (SMA) is a heritable condition in Brown Swiss cattle characterized by profound muscular atrophy affecting appendicular muscles, particularly of the rear limb. Axial muscles are also affected. The affected ventral horn neurons are initially swollen and chromatolytic; this is followed by a shrunken appearance, necrosis, and ...
D, Troyer, W C, Cash, J, Vestweber, T, Hiraga, H W, Leipold   +4 more
openaire   +2 more sources