Results 51 to 60 of about 121,688 (385)
The use of sugammadex in a patient with Kennedy′s disease under general anesthesia
Saudi Journal of Anaesthesia, 2014 Kennedy′s disease (KD), also known as spinal and bulbar muscular atrophy, is a rare, X-linked recessive, neurodegenerative disorder of the lower motor neurons characterized by progressive bulbar and appendicle muscular atrophy. Here we report a case of a
Risa Takeuchi +3 more
doaj +1 more source
Congenital muscular dystrophy: from muscle to brain. [PDF]
, 2016 Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G +7 more
core +1 more source
Case Reports in Medicine, 2018 Spinal muscular atrophy is a genetic neuromuscular disease characterised by muscle atrophy, hypotonia, weakness, and progressive paralysis. Usually, these patients display increased fat mass deposition and reductions in fat-free mass and resting energy ...
Marwan El Ghoch +3 more
doaj +1 more source
Pontocerebellar Hypoplasia Type 1
Pediatric Neurology Briefs, 2009 Slowly progressive cerebellar ataxia in a 12-year-old Indian boy with early onset anterior horn cell spinal muscular atrophy is reported from the Department of Pediatric Neurology, Government Medical College, Kerala, India.
J Gordon Millichap
doaj +1 more source
A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran
International Medical Case Reports Journal, 2019 Spinal muscular atrophy (SMA) is a disorder characterized by decreased motor function due to the muscle atrophy in the background of degenerated anterior horn cells and motor cells of lower cranial nerves nuclei. The most frequent form is inherited as an
Reza Shervin Badv +4 more
semanticscholar +1 more source
Journal of Cardiothoracic Surgery, 2023 Introduction Spinal muscular atrophy (SMA) is a severe, inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy.
Mehmet Biçer +3 more
doaj +1 more source
Cells, 2022 Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and one of the most common genetic causes of infant death. It is characterized by progressive weakness of the muscles, loss of ambulation, and death from respiratory ...
Tejal Aslesh, T. Yokota
semanticscholar +1 more source
WDR79/TCAB1 plays a conserved role in the control of locomotion and ameliorates phenotypic defects in SMA models [PDF]
, 2017 SMN (Survival Motor Neuron) deficiency is the predominant cause of spinal muscular atrophy (SMA), a severe neurodegenerative disorder that can lead to progressive paralysis and death.
Bavasso, Francesca +11 more
core +1 more source
Curability of Progressive Muscular Atrophy [PDF]
The Boston Medical and Surgical Journal, 1922 n ...
openaire +2 more sources
Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy [PDF]
, 2016 Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein, primarily affecting lower motor neurons. Recent evidence from SMA and related conditions suggests that glial cells can influence disease severity.
Brophy, Peter J. +9 more
core +3 more sources