Abstract

BRIDGING THE GAP: EXPLORING SPINAL ATROPHY FROM BENCH TO BEDSIDE

Snehal S. Kadam*, Aditi S. Khairnar, Sanskruti R. Talele, Harshita N. Gajare, Priti A. Kothawade and Dr. M. R. N. Shaikh

ABSTRACT

The disease that is recessive inherited proximal spinal muscular atrophy is a severe neuromuscular illness that causes progressive proximal muscle weakening and paralysis. It is defined by the degeneration of α motor neurons in the spinal cord. With an estimated frequency of 1 in 10,000 live births, spinal muscular atrophy is the second most prevalent fatal autosomal recessive condition after cystic fibrosis. Despite the lack of a cure, research has revealed potential processes that may underlie the disease's molecular etiology. The natural course of SMA has changed over the last few decades, mostly through medical support measures, although no effective therapy is currently available. However, given the similar hereditary etiology and recent advances in pre-clinical models, SMA appears to be well-suitedfor treatment regimen development. Here, we offer a thorough analysis that incorporates information from clinical trials, molecular etiology, diagnostic approach, and clinical symptoms. Considering the high prevalence of carriers, transport testing can be requested by siblings who are patients or the parents of SMA kids and is intended to gain information that could assist in reproductive organizing. Everyone at risk should be evaluated first, and if testing is favorable, the partner should then be analyzed. It is advised that in case of a request for carrier testing on siblings of an impacted SMA infant, an extensive neurological evaluation should be done and considered.

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