Spinal Muscular Atrophy: A Short Review Article

Ashrafzadeh, Farah and Sadr-Nabavi, Ariane and Asadian, Nazanin and Akhondian, Javad and Beiraghi Toosi, Mehran (2014) Spinal Muscular Atrophy: A Short Review Article. International Journal of Pediatrics, 2 (3.1). pp. 211-215.

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Abstract

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 failure, symmetric muscle atrophy and paralysis in patients with SMA. Manifestations are prominent in proximal muscle of lower extremities. There is no curative treatment for spinal muscular atrophy, and supportive treatment should be considered to improve patients’ quality of life and independency. New treatment strategies focus on gene therapy or invent method to increase survival motor neuron protein level. The aim of this study is to review Spinal muscular atrophy (SMA) clinical and molecular manifestations.

Item Type: Article
Subjects: WA Public Health
WS Pediatrics
Divisions: Journals > International J Pediatrics
Depositing User: IJP IJP
Date Deposited: 29 Sep 2017 21:43
Last Modified: 29 Sep 2017 21:43
URI: http://eprints.mums.ac.ir/id/eprint/6840

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