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

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. 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, URL: https://www.ijtsrd.com/papers/ijtsrd47658.pdf Paper URL : https://www.ijtsrd.com/pharmacy/other/47658/a-review-on-spinal-muscular-atrophy-clinical-classification-etiology-diagnosis-and-treatment/deborah-rose