A Review on Spinal Muscular Atrophy: Clinical Classification, Etiology, Diagnosis and Treatment

Subhashini. A; Dr. K. C. Arul Prakasam | Aarthy. P | D. N. Ashritha; Deborah Rose

Title:
A Review on Spinal Muscular Atrophy: Clinical Classification, Etiology, Diagnosis and Treatment

Authors:
Deborah Rose | Subhashini. A | Dr. K. C. Arul Prakasam | Aarthy. P | D. N. Ashritha

Cite This Article :

Deborah Rose | Subhashini. A | Dr. K. C. Arul Prakasam | Aarthy. P | D. N. Ashritha "A Review on Spinal Muscular Atrophy: Clinical Classification, Etiology, Diagnosis and Treatment" Published in International Journal of Trend in Scientific Research and Development (ijtsrd), ISSN: 2456-6470, Volume-5 | Issue-6, October 2021, pp.1440-1443, URL: https://www.ijtsrd.com/papers/ijtsrd47658.pdf

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Abstract :
Spinal muscular atrophy (SMA) is an inherited, progressive neuromuscular disease that can cause weakness, degeneration of anterior horn cells, and muscle atrophy. It was first discovered in infants by physicians Guido Werdnig and Johan Hoffmann. SMA is mainly caused due to the mutation of the survival motor neuron 1 (SMN1). Based on phenotype it is classified into four grades of severity as SMA I, SMA II, SMA III and, SMA IV. SMA is diagnosed by Molecular genetic testing such as Multiplex Ligation-Dependent Probe Amplification (MLPA) and real-time polymerase chain reaction(PCR);laboratory examination includes creatine kinase dosage and electrophysiological tests such as electromyography (EMG), and nerve conduction studies. Various drugs used for the treatment of SMA are Nusinersen, Risdiplam, Zolgensma, Reldesemtiv, and Combination therapy. Spinal muscular atrophy (SMA) Foundation and Pharmacy and therapeutic Committee (PTC), have been conducting many clinical trials for a potential SMA treatment.

Keywords :
Spinal muscular atrophy; Clinical classification; Etiology; Diagnosis; Treatment

Publication Details:

Unique Identification Number : IJTSRD47658

Published In : Volume-5 | Issue-6, October 2021

Page Number(s) : 1440-1443

Publisher Name : IJTSRD | www.ijtsrd.com | E-ISSN 2456-6470

Copyright © 2019 by author(s) and International Journal of Trend in Scientific Research and Development Journal. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0) (http://creativecommons.org/licenses/by/4.0)

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