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Spinal Muscle Atrophy

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https://www.readbyqxmd.com/read/28344438/learning-disabilities-in-neuromuscular-disorders-a-springboard-for-adult-life
#1
Guja Astrea, Roberta Battini, Sara Lenzi, Silvia Frosini, Silvia Bonetti, Elena Moretti, Silvia Perazza, Filippo M Santorelli, Chiara Pecini
Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of children with congenital muscular dystrophies, notwithstanding the presence of cerebral abnormality in some forms, and in spinal muscular atrophies, with the exception of distal spinal muscular atrophy (such as the DYN1CH1- associated form)...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28338488/respiratory-complications-management-and-treatments-for-neuromuscular-disease-in-children
#2
MyMy C Buu
PURPOSE OF REVIEW: To summarize current literature describing the respiratory complications of neuromuscular disease (NMD) and the effect of respiratory interventions and to explore new gene therapies for patients with NMD. RECENT FINDINGS: Measurements of respiratory function focus on vital capacity and maximal inspiratory and expiratory pressure and show decline over time. Management of respiratory complications includes lung volume recruitment, mechanical insufflation-exsufflation, chest physiotherapy and assisted ventilation...
March 23, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28332092/the-spectrum-of-neuropathological-changes-associated-with-congenital-zika-virus-infection
#3
Leila Chimelli, Adriana S O Melo, Elyzabeth Avvad-Portari, Clayton A Wiley, Aline H S Camacho, Vania S Lopes, Heloisa N Machado, Cecilia V Andrade, Dione C A Dock, Maria Elisabeth Moreira, Fernanda Tovar-Moll, Patricia S Oliveira-Szejnfeld, Angela C G Carvalho, Odile N Ugarte, Alba G M Batista, Melania M R Amorim, Fabiana O Melo, Thales A Ferreira, Jacqueline R L Marinho, Girlene S Azevedo, Jeime I B F Leal, Rodrigo F Madeiro da Costa, Stevens Rehen, Monica B Arruda, Rodrigo M Brindeiro, Rodrigo Delvechio, Renato S Aguiar, Amilcar Tanuri
A major concern associated with ZIKV infection is the increased incidence of microcephaly with frequent calcifications in infants born from infected mothers. To date, postmortem analysis of the central nervous system (CNS) in congenital infection is limited to individual reports or small series. We report a comprehensive neuropathological study in ten newborn babies infected with ZIKV during pregnancy, including the spinal cords and dorsal root ganglia (DRG), and also muscle, pituitaries, eye, systemic organs, and placentas...
March 22, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28328128/first-drug-to-treat-spinal-muscular-atrophy-gets-fda-approval-costly-injectable-shown-to-stall-debilitating-muscle-wasting-effects-of-rare-genetic-disorder
#4
(no author information available yet)
No abstract text is available yet for this article.
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28302142/maximum-inspiratory-pressure-as-a-clinically-meaningful-trial-endpoint-for-neuromuscular-diseases-a-comprehensive-review-of-the-literature
#5
REVIEW
Benedikt Schoser, Edward Fong, Tarekegn Geberhiwot, Derralynn Hughes, John T Kissel, Shyam C Madathil, David Orlikowski, Michael I Polkey, Mark Roberts, Harm A W M Tiddens, Peter Young
Respiratory muscle strength is a proven predictor of long-term outcome of neuromuscular disease (NMD), including amyotrophic lateral sclerosis, Duchenne muscular dystrophy, and spinal muscular atrophy. Maximal inspiratory pressure (MIP), a sensitive measure of respiratory muscle strength, one of several useful tests of respiratory muscle strength, is gaining interest as a therapeutic clinical trial endpoint for NMD. In this comprehensive review we investigate the use of MIP as a measure of respiratory muscle strength in clinical trials of therapeutics targeting respiratory muscle, examine the correlation of MIP with survival, quality of life, and other measures of pulmonary function, and outline the role of MIP as a clinically significantly meaningful outcome measure...
March 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28278160/hyperleptinemia-in-children-with-autosomal-recessive-spinal-muscular-atrophy-type-i-iii
#6
Heike Kölbel, Berthold P Hauffa, Stefan A Wudy, Anastasios Bouikidis, Adela Della Marina, Ulrike Schara
BACKGROUND: Autosomal-recessive proximal spinal muscular atrophies (SMA) are disorders characterized by a ubiquitous deficiency of the survival of motor neuron protein that leads to a multisystemic disorder, which mostly affects alpha motor neurons. Disease progression is clinically associated with failure to thrive or weight loss, mainly caused by chewing and swallowing difficulties. Although pancreatic involvement has been described in animal models, systematic endocrinological evaluation of the energy metabolism in humans is lacking...
2017: PloS One
https://www.readbyqxmd.com/read/28270613/smn-deficiency-in-severe-models-of-spinal-muscular-atrophy-causes-widespread-intron-retention-and-dna-damage
#7
Mohini Jangi, Christina Fleet, Patrick Cullen, Shipra V Gupta, Shila Mekhoubad, Eric Chiao, Norm Allaire, C Frank Bennett, Frank Rigo, Adrian R Krainer, Jessica A Hurt, John P Carulli, John F Staropoli
Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disease, is the leading monogenic cause of infant mortality. Homozygous loss of the gene survival of motor neuron 1 (SMN1) causes the selective degeneration of lower motor neurons and subsequent atrophy of proximal skeletal muscles. The SMN1 protein product, survival of motor neuron (SMN), is ubiquitously expressed and is a key factor in the assembly of the core splicing machinery. The molecular mechanisms by which disruption of the broad functions of SMN leads to neurodegeneration remain unclear...
March 21, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28264437/transplantation-of-embryonic-spinal-cord-derived-cells-helps-to-prevent-muscle-atrophy-after-peripheral-nerve-injury
#8
Carolin Ruven, Wen Li, Heng Li, Wai-Man Wong, Wutian Wu
Injuries to peripheral nerves are frequent in serious traumas and spinal cord injuries. In addition to surgical approaches, other interventions, such as cell transplantation, should be considered to keep the muscles in good condition until the axons regenerate. In this study, E14.5 rat embryonic spinal cord fetal cells and cultured neural progenitor cells from different spinal cord segments were injected into transected musculocutaneous nerve of 200-300 g female Sprague Dawley (SD) rats, and atrophy in biceps brachii was assessed...
February 27, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28251189/the-influence-of-sarcopenia-in-dropped-head-syndrome-in-older-women
#9
Yawara Eguchi, Toru Toyoguchi, Masao Koda, Munetaka Suzuki, Hajime Yamanaka, Hiroshi Tamai, Tatsuya Kobayashi, Sumihisa Orita, Kazuyo Yamauchi, Miyako Suzuki, Kazuhide Inage, Kazuki Fujimoto, Hirohito Kanamoto, Koki Abe, Yasuchika Aoki, Kazuhisa Takahashi, Seiji Ohtori
BACKGROUND: Age-related sarcopenia may cause physical dysfunction. We investigated the involvement of sarcopenia in dropped head syndrome (DHS). METHODS: Our study subjects were ten elderly women with idiopathic DHS (mean age 75.1 years, range 55-89). Twenty age- and sex-matched volunteers (mean age 73.0, range 58-83) served as controls. We used a bioelectrical impedance analyzer (BIA) to analyze body composition, including appendicular skeletal muscle mass index (SMI; appendicular lean mass (kg)/(height (m))(2))...
2017: Scoliosis and Spinal Disorders
https://www.readbyqxmd.com/read/28242130/kennedy-s-disease-1234-scale-preliminary-design-and-test
#10
Ming Lu, Haixiao Guo, Dongsheng Fan
Kennedy's disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare x-linked genetic disorder which is characterized by muscle weakness and atrophy. In previous clinical trials, KD patients had been assessed using the ALSFRS scale, which was specifically designed for ALS patients. However, the progression of KD is very slow, and thus, the ALSFRS does not accurately reflect changes in the clinical condition of KD patient. Here, we developed the KD 1234 scale which designed specially for KD...
February 24, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28237315/loss-of-spatacsin-function-alters-lysosomal-lipid-clearance-leading-to-upper-and-lower-motor-neuron-degeneration
#11
Julien Branchu, Maxime Boutry, Laura Sourd, Marine Depp, Céline Leone, Alexandrine Corriger, Maeva Vallucci, Typhaine Esteves, Raphaël Matusiak, Magali Dumont, Marie-Paule Muriel, Filippo M Santorelli, Alexis Brice, Khalid Hamid El Hachimi, Giovanni Stevanin, Frédéric Darios
Mutations in SPG11 account for the most common form of autosomal recessive hereditary spastic paraplegia (HSP), characterized by a gait disorder associated with various brain alterations. Mutations in the same gene are also responsible for rare forms of Charcot-Marie-Tooth (CMT) disease and progressive juvenile-onset amyotrophic lateral sclerosis (ALS). To elucidate the physiopathological mechanisms underlying these human pathologies, we disrupted the Spg11 gene in mice by inserting stop codons in exon 32, mimicking the most frequent mutations found in patients...
February 22, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28229309/nusinersen-first-global-approval
#12
Sheridan M Hoy
Spinal muscular atrophy (SMA) is a rare autosomal recessive disorder characterized by muscle atrophy and weakness resulting from motor neuron degeneration in the spinal cord and brainstem. It is most commonly caused by insufficient levels of survival motor neuron (SMN) protein (which is critical for motor neuron maintenance) secondary to deletions or mutations in the SMN1 gene. Nusinersen (SPINRAZA™) is a modified antisense oligonucleotide that binds to a specific sequence in the intron, downstream of exon 7 on the pre-messenger ribonucleic acid (pre-mRNA) of the SMN2 gene...
March 2017: Drugs
https://www.readbyqxmd.com/read/28229243/correlation-of-insulin-resistance-and-motor-function-in-spinal-and-bulbar-muscular-atrophy
#13
Hideaki Nakatsuji, Amane Araki, Atsushi Hashizume, Yasuhiro Hijikata, Shinichiro Yamada, Tomonori Inagaki, Keisuke Suzuki, Haruhiko Banno, Noriaki Suga, Yohei Okada, Manabu Ohyama, Tohru Nakagawa, Ken Kishida, Tohru Funahashi, Iichiro Shimomura, Hideyuki Okano, Masahisa Katsuno, Gen Sobue
This study aimed to evaluate various metabolic parameters in patients with spinal and bulbar muscular atrophy (SBMA), to investigate the association between those indices and disease severity, and to explore the underlying molecular pathogenesis. We compared the degree of obesity, metabolic parameters, and blood pressure in 55 genetically confirmed SBMA patients against those in 483 age- and sex-matched healthy control. In SBMA patients, we investigated the correlation between these factors and motor functional indices...
February 22, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28218388/the-new-neuromuscular-disease-related-with-defects-in-the-asc-1-complex-report-of-a-second-case-confirms-ascc1-involvement
#14
Jorge Oliveira, Márcia Martins, Rosário Pinto Leite, Mário Sousa, Rosário Santos
Next-generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested negative. A male sibling was subsequently born with the same clinical presentation. Whole-exome sequencing was performed with variant filtering assuming a recessive disease model...
February 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28207658/association-between-paraspinal-muscle-morphology-clinical-symptoms-and-functional-status-in-patients-with-degenerative-cervical-myelopathy
#15
Maryse Fortin, Octavian Dobrescu, Matthew Courtemanche, Carolyn J Sparrey, Carlo Santaguida, Michael G Fehlings, Michael H Weber
STUDY DESIGN: A cross-sectional study. OBJECTIVE: The aim of this study was to assess fatty infiltration and asymmetry of the multifidus (MF), semispinalis cervicis (SCer), semispinalis capitis (SCap), and splenius capitis (SPL) muscles in patients with degenerative cervical myelopathy (DCM), and evaluate their correlations with clinical symptoms and functional scores. SUMMARY OF BACKGROUND DATA: Cervical muscle alterations have been reported in patients with chronic neck pain, but the assessment of cervical muscle morphology has been overlooked in patients with DCM...
February 15, 2017: Spine
https://www.readbyqxmd.com/read/28207618/magnetic-resonance-imaging-evaluation-of-the-effects-of-surgical-invasiveness-on-paravertebral-muscles-after-muscle-preserving-interlaminar-decompression-mild
#16
Hitoshi Tonomura, Yoichiro Hatta, Yasuo Mikami, Takumi Ikeda, Tomohisa Harada, Masateru Nagae, Hironori Koike, Hitoshi Hase, Toshikazu Kubo
STUDY DESIGN: This is a retrospective study. OBJECTIVES: The aim of this study was to determine the extent of damage to the paravertebral muscles after muscle-preserving interlaminar decompression (MILD) using magnetic resonance imaging to evaluate changes in the multifidus muscle (MF). SUMMARY OF BACKGROUND DATA: Short-term surgical outcomes of MILD for lumbar spinal canal stenosis (LSCS) are satisfactory; however, the extent of damage to the paravertebral muscles after MILD remains unclear...
March 2017: Clinical Spine Surgery
https://www.readbyqxmd.com/read/28207315/diagnosis-of-lumbosacral-diskospondylosis-in-a-bucking-bull-assisted-by-high-definition-thermal-and-nuclear-scintigraphic-imaging
#17
Marc Caldwell, Thomas Passler, Ram C Purohit, David Pascoe, Dwight F Wolfe
CASE DESCRIPTION An 8-year-old Brahman-cross bull was evaluated for left hind limb lameness of 2 months' duration. The lameness was first noticed during a rodeo bucking performance, immediately after the bull appeared to land inappropriately on the affected limb. CLINICAL FINDINGS Physical examination findings revealed left hind limb lameness, ataxia, and left-sided epaxial muscle atrophy. Palpation per rectum along the lumbar portion of the vertebral column revealed evidence of exostosis of the ventral aspect...
March 1, 2017: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/28197201/-three-methods-and-three-points-regulates-p38-mitogen-activated-protein-kinase-in-the-dorsal-horn-of-the-spinal-cord-in-a-rat-model-of-sciatic-nerve-injury
#18
Xin Guo, Tian-Yuan Yu, Wong Steven, Wen-Duan Jia, Chi Ma, Yan-Hong Tao, Chao Yang, Tao-Tao Lv, Shuai Wu, Meng-Qian Lu, Jia-Li Liu
Tuina is a traditional Chinese treatment for sensory disturbances caused by peripheral nerve injury and related diseases. Our previous studies showed that tuina regulates relevant regions and indices of the spinal dorsal horn using the Dian, Bo, and Rou method in Yinmen (BL37), Yanglingquan (GB34), and Weizhong (BL40). Treatment prevents muscle atrophy, protects spinal cord neurons, and promotes sciatic nerve repair. The mechanisms of action of tuina for treating peripheral nerve injury remain poorly understood...
December 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/28193782/mitochondrial-mass-and-activity-as-a-function-of-body-composition-in-individuals-with-spinal-cord-injury
#19
Laura C O'Brien, Rodney C Wade, Liron Segal, Qun Chen, Jeannie Savas, Edward J Lesnefsky, Ashraf S Gorgey
Spinal cord injury (SCI) is accompanied by deterioration in body composition and severe muscle atrophy. These changes put individuals at risk for insulin resistance, type II diabetes, and cardiovascular disease. To determine the relationships between skeletal muscle mitochondrial mass, activity, and body composition, 22 men with motor complete SCI were studied. Body composition assessment was performed using dual-energy X-ray absorptiometry and magnetic resonance imaging. Skeletal muscle biopsies were obtained from the vastus lateralis muscle to measure citrate synthase (CS) and complex III (CIII) activity...
February 2017: Physiological Reports
https://www.readbyqxmd.com/read/28180981/does-pre-operative-magnetic-resonance-imaging-of-the-lumbar-multifidus-muscle-predict-clinical-outcomes-following-lumbar-spinal-decompression-for-symptomatic-spinal-stenosis
#20
Mario G T Zotti, F Vilas Boas, T Clifton, M Piche, W W Yoon, B J C Freeman
PURPOSE: To investigate whether pre-operative magnetic resonance imaging (MRI) of the lumbar multifidus muscle (LMM) would predict clinical outcomes following lumbar spinal decompression for symptomatic spinal stenosis. METHODS: A prospective cohort of patients with symptomatic neurogenic claudication, documented spinal stenosis on pre-operative MRI underwent spinal decompression. All subjects completed standardised outcome measures (Core Outcome Measures Index (COMI), Oswestry Disability Index (ODI v2...
February 8, 2017: European Spine Journal
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