CAUSES MANAGMENT AND PERCEPTION OF SPINAL MASCULAR ATROPHY AMONG INFANTS

Naveneet Chaudhary*

ABSTRACT

Now-a-days, people are facing various kind of stress in the fast daily life and most of the people in the world are suffering from various neurological disorder. Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases with progressive weakness of skeletal and respiratory muscles, leading to significant disability.In the most severe cases and when left untreated, leads to death within the first two years of life. Recent therapeutic advances have given hope to families and patients by compensating for the deficiency in survival motor neuron (SMN) protein via gene therapy or other genetic manipulation. We then explore recent preclinical research that is identifying and targeting dysregulated pathways secondary to, or independent of, SMN deficiency that may provide adjunctive opportunities for SMA. These additional therapies are likely to be key for the development of treatments that are effective across the lifespan of SMA patients. In this review, we discuss the three currently licensed therapies for SMA, briefly highlighting their respective advantages and disadvantages. Recently, Food and Drug Administration (FDA) and European Medical Agency (EMA) approved the antisense oligonucleotide nusinersen, the first SMA disease-modifying treatment and gene replacement therapy by onasemnogene abeparvovec. However, the availability of effective approaches has raised up ethical, medical and financial issues that are routinely faced by the SMA community. This review covers the available data and the new challenges of SMA therapeutic strategies.

Keywords: Spinal Muscular Atrophy, Motor Neuron, Survival Motor Neuron, Autosomal recessive diseases.