Surgical treatment of scoliosis in spinal muscular atrophy. Em 12 pacientes foi realizada artrodese via posterior com instrumental de Luque-Galveston, e em 2 com instrumental de Cotrel-Dubousset. METHOD: Clinical data and radiographic imaging from 14 SMA patients with surgical treatment of scoliosis were reviewed, and all were reassessed clinically with new spinal radiographs and a questionnaire. The mean follow-up were 22 months.
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Thamyres Cordeiro flag Denunciar. Arq Neuropsiquiatr. Prior TW. Spinal muscular atrophy diagnostics. J Child Neurol. Russman BS. Spinal muscular atrophy: clinical classifications and disease heterogeneity.
Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling. Am J Hum Genet. Treatment of spinal muscular atrophy by sodium butyrate. Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype.
Consensus statement for standard of care in spinal muscular atrophy. The changing natural history of spinal muscular atrophy type 1. Spinal muscular atrophy: from gene to therapy.
Semin Pediatr Neurol. Natural history in proximal spinal muscular atrophy. Clinical analysis of patients and suggestions for a modification of existing classifications. Arch Neurol. Sumner CJ. Molecular mechanisms of spinal muscular atrophy. Perspectives on clinical trials in spinal muscular atrophy. SMN transcript stability: could modulation of messenger RNA degradation provide a novel therapy for spinal muscular atrophy?
Identification and characterization of a spinal muscular atrophy-determining gene. Valproic acid increases SMN levels in spinal muscular atrophy patient cells. Ann Neurol. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci. Hum Mol Genet. Burghes AH. When is a deletion not a deletion? When it is converted. The survival motor neuron protein in spinal muscular atrophy. Knockdown of the survival motor neuron Smn protein in zebrafish causes defects in motor axon outgrowth and pathfinding.
J Cell Biol. Oskoui M, Kaufmann P. Spinal muscular atrophy. Molecular functions of the SMN complex. Fishing for a mechanism: using zebrafish to understand spinal muscular atrophy. Survival motor neuron protein modulates neuron-specific apoptosis. An Prod Acad Doc. Reed UC. J Pediatr Rio J. Mitochondrial myopathy simulating spinal muscular atrophy.
Pediatr Neurol. Histological and histochemical changes in skeletal muscle from cases of chronic juvenile and early adult spinal muscular atrophy the Kugelberg-Welander syndrome.
J Neurol Sci. A novel cell imunoassay to measure survival of motor neurons protein in blood cells. BMC Neurol. Iannaccone ST. Modern management of spinal muscular atrophy. Regular exercise prolongs survival in a type 2 spinal muscular atrophy model mouse.
J Neurosci. Lunke S, El-Osta A. The emerging role of epigenetic modifications and chromatin remodeling in spinal muscular atrophy. J Neurochem. Therapeutics development for spinal muscular atrophy. Valproic acid blocks excitability in SMA type I mouse motor neurons. Neurobiol Dis. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy.
Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients. Eur J Hum Genet. Multiple therapeutic effects of valproic acid in spinal muscular atrophy model mice. J Mol Med. Valproic acid treatment in six patients with spinal.
Amiotrofia Espinhal Progressiva Artigo
Respiratory complications are the main causes of morbidity and mortality in patients with neuromuscular disease NMD. The objectives of this study were to determine the effects that routine daily home air-stacking maneuvers have on pulmonary function in patients with spinal muscular atrophy SMA and in patients with congenital muscular dystrophy CMD , as well as to identify associations between spinal deformities and the effects of the maneuvers. Eighteen NMD patients ten with CMD and eight with SMA were submitted to routine daily air-stacking maneuvers at home with manual resuscitators for four to six months, undergoing pulmonary function tests before and after that period. In the patients without scoliosis, there was also a significant increase in FVC. Neuromuscular diseases NMDs are acquired or inherited conditions that affect parts of the neuromuscular system, such as skeletal muscles, peripheral motor nerves, neuromuscular junction, and motor neurons in the spinal cord. Spinal muscular atrophy SMA is an autosomal recessive neurodegenerative disease of childhood characterized by degeneration and loss of lower motor neurons in the anterior horn cells of the spinal cord, causing progressive proximal weakness and atrophy of skeletal muscles. Some of the most common inherited muscle diseases include progressive muscular dystrophies e.
Management of neuromuscular diseases and spinal muscular atrophy in Latin America
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