Author/Authors :
Ashrafzadeh، Farah نويسنده , , Sadr Nabavi، Ariyaneh نويسنده Assistant Professor of Human Genetic, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. , , Asadian، Nazanin نويسنده Students Research Committee, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. , , Akhondian، Javad نويسنده , , Beiraghi Toosi4، Mehran نويسنده Assistant Professor of Pediatric Neurology Ward, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran. ,
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 clinical and molecular manifestations.
