| چکیده انگلیسی مقاله |
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. |
| نویسندگان مقاله |
فرح اشرف زاده | farah ashrafzadeh
professor of pediatric neurology ward, faculty of medicine, mashhad university of medical sciences, mashhad, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
آریانه صدر نبوی | ariane sadr nabavi
assistant professor of human genetic, faculty of medicine, mashhad university of medical sciences, mashhad, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
نازنین اسدیان | nazanin asadian
students research committee, faculty of medicine, mashhad university of medical sciences, mashhad, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
جواد آخوندیان | javad akhondian
professor of pediatric neurology ward, faculty of medicine, mashhad university of medical sciences, mashhad, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
مهران بیرقی طوسی | mehran beiraghi toosi
assistant professor of pediatric neurology ward, faculty of medicine, mashhad university of medical sciences, mashhad, iran.
سازمان اصلی تایید شده: دانشگاه علوم پزشکی مشهد (Mashhad university of medical sciences)
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