A Review on Spinal Muscular Atrophy: Its Cause, Diagnosis and Treatment
DOI:
https://doi.org/10.48047/Keywords:
Evrysdi, Multiplex ligation-dependant probe amplication, Nusinersen, Risdiplam, Spinal muscular atrophy, Survival motor neuron protein.Abstract
The spinal muscular atrophy is considered as one of the familiar autosomal recessive disorder. Children
suffering from spinal muscular atrophy suffer with diminished ability of normal growing processes like
crawling, sitting, walking and controlling head movements. Even if SMA becomes severe, it may lead to
damage of muscles helpful in breathing and swallowing which life is threatening. It was found that SMA occurs
due to improper production of SMN (the survival motor neuron protein). The mutations on SMN1 and SMN2
gene are responsible for the improper production of SMN protein. The deletion of SMN1 gene is regarded as the
primary level diagnostic test. Other conformation tests are electromyogram and Multiplex ligation-dependant
probe amplification (MLPA) test. Treatment of SMA was done initially by using drugs like Quinozoline
derivatives, aminoglycosides and neuroprotective drugs. However, these drugs increased the life span of SMA
patients but could not offer relief from the disease. Hence, gene therapy came in to focus and found useful in the
treatment of SMA. Currently used 3 forms of gene therapy are Nusinersen (Spinraza), Onaswmnogene
abeparvovec – xioi (Zolgensma) and Risdiplam (Evrysdi). Stem cell therapy is used which involves the
transplantation of stem cells.
