PRO92 ESTIMATING DISUTILITIES IN SPINAL MUSCULAR ATROPHY USING A STATED PREFERENCE SURVEY: A UK GENERAL PUBLIC 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...
متن کاملspinal 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...
متن کاملA Patient with Tuberous Sclerosis Complex and Spinal Muscular Atrophy; A Case Report
Background Tuberous Sclerosis Complex (TSC), and Spinal Muscular Atrophy (SMA) are two inherited disorders while they are genetically independent. TSC is characterized by the formation of multiple hamartomas in nearly all organs. SMA is a destructive neurological disorder leading to progressive muscular weakness and atrophy. Case Presentation</e...
متن کاملNewborn genetic screening for spinal muscular atrophy in the UK: The views of the general population
BACKGROUND Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder and a leading genetic cause of infant death worldwide. However, there is no routine screening program for SMA in the UK. Lack of treatments and the inability of screening tests to accurately predict disease severity are among the key reasons implementation of screening has faltered in the UK. With the recent release...
متن کاملElectrical impedance myography in spinal muscular atrophy: a longitudinal study.
INTRODUCTION New approaches for assessing disease progression in spinal muscular atrophy (SMA) are needed. In this study, we evaluate whether electrical impedance myography (EIM) can detect disease progression in SMA compared with a group of healthy children of similar age. METHODS Twenty-eight children with SMA and 20 normal children underwent repeated EIM testing in four muscles at regular ...
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ژورنال
عنوان ژورنال: Value in Health
سال: 2020
ISSN: 1098-3015
DOI: 10.1016/j.jval.2020.04.1313