Sensory changes in pediatric patients with spinal muscular atrophy: an electrophysiologic study
نویسندگان
چکیده
منابع مشابه
Spinal Muscular Atrophy: A Short Review Article
Spinal muscular atrophy (SMA) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN) protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...
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BACKGROUND Spinal muscular atrophy (SMA) is a genetic disease of the anterior horn cell with a frequency of 8 per 100 000 live births and a high rate of mortality during infancy. The American Spinal Muscular Atrophy Randomized Trials (AmSMART) Group is an organization of 5 centers formed to perform clinical trials in children with SMA. OBJECTIVE To devise reliable methods to measure strength,...
متن کاملSurvival of Patients With Spinal Muscular Atrophy
BACKGROUND: Spinal muscular atrophy type 1 (SMA1) is a progressive disease and is usually fatal in the first year of life. METHODS: A retrospective chart review was performed of SMA1 patients and their outcomes according to the following choices: letting nature take its course (NT); tracheostomy and invasive mechanical ventilation (TV); continuous noninvasive respiratory muscle aid (NRA), inclu...
متن کاملNAIP-deletion analysis in Malaysian patients with spinal muscular atrophy.
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease, which is characterized by degeneration of the anterior horn cells of the spinal cord. SMA is classified into 3 clinical subtypes, type I (severe), type II (intermediate), and type III (mild). Two genes, SMN1 and NAIP, have been identified as SMA-related genes. The SMN1 gene is now recognized as a responsible gene for the disease b...
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ژورنال
عنوان ژورنال: Egyptian Rheumatology and Rehabilitation
سال: 2016
ISSN: 1110-161X,2090-3235
DOI: 10.4103/1110-161x.177419