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
International Journal of Trend in Scientific Research and Development (IJTSRD)
Volume 5 Issue 6, September-October 2021 Available Online: www.ijtsrd.com e-ISSN: 2456 – 6470
@ IJTSRD | Unique Paper ID – IJTSRD47658 | Volume – 5 | Issue – 6 | Sep-Oct 2021
Page 1440
A Review on Spinal Muscular Atrophy:
Clinical Classification, Etiology, Diagnosis and Treatment
Deborah Rose, Subhashini. A, Dr. K. C. Arul Prakasam, Aarthy. P, D. N. Ashritha
Department of Pharmacy Practice, JKKMMRF’s Annai JKK
Sampoorani Ammal College of Pharmacy, Komarapalayam, Tamil Nadu, India
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.
KEY WORDS: Spinal muscular atrophy; Clinical classification;
Etiology; Diagnosis; Treatment
How to cite this paper: 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), ISS