A review on spinal muscular atrophy: An inherited neuromuscular disease

نویسندگان

چکیده

Spinal muscular atrophy is an inherited neurodegenerative illness characterized by muscle wasting and loss of spinal cord motor neurons. It results from homozygous loss, translation, or mutation the survival neuron 1 (SMN1) gene. Despite lack a cure, research has revealed potential processes explaining disease’s molecular etiology. The SMN1 gene region’s distinctive genomic structure been used to design treatment plans. Several stages development have recognized for number possible therapeutic agents. standard people having evolved as result these other healthcare technological advancements. In this review, we provide comprehensive review general introduction, types, symptoms, causes, diagnosis, management (SMA)..

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

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 کامل

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 کامل

Drawing Word co-occurrence map of Spinal Muscular Atrophy disease

Introduction:  The purpose of this article is to evaluate the status of articles in the field of Spinal Muscular Atrophy According to the Scientometrics indices Word co-occurrence map of this field . Methods: The present study is an applied one with a quantitative approach and a descriptive approach. It has been done using scientometrics and the co-occurrence words analysis technique. Document...

متن کامل

Spinal muscular atrophy disease: a literature review for therapeutic strategies

Currently, there is no cure for the treatment of spinal muscular atrophy (SMA). Based on the available clinical and molecular findings, different therapeutic strategies were tested in vitro and in vivo and clinical trials are ongoing. The main therapeutic direction is focused on the enhancement of SMN expression by increasing the full-length (fl) SMN2 transcript levels, preventing the SMN exon ...

متن کامل

Spinal muscular atrophy: a timely review.

Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by loss of motor neurons in the anterior horn of the spinal cord and resultant weakness. The most common form of SMA, accounting for 95% of cases, is autosomal recessive proximal SMA associated with mutations in the survival of motor neurons (SMN1) gene. Relentless progress during the past 15 years in the understanding o...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: IP international journal of comprehensive and advanced pharmacology

سال: 2023

ISSN: ['2456-9542', '2581-5555']

DOI: https://doi.org/10.18231/j.ijcaap.2023.003