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Identification and Therapeutic Development of Spinal Muscular Atrophy

Journal: Journal of Pharmacy and Pharmacology (Vol.10, No. 8)

Publication Date:

Authors : ; ; ;

Page : 226-231

Keywords : ;

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Abstract

The most prevalent condition in children is spinal muscular atrophy (SMA), for which there is presently no efficient treatment. It is characterised by atrophy of skeletal muscle motor neuron in the spinal cord are deterioting, and widespread weakness. The survival motor neuron 1 (SMN1) gene is disrupted in homozygous fashion as a result of detection, conversion, or mutation. Given the high carrier frequency, siblings of parents or of parents of SMA children are required to undergo carrier testing, which aims to collect data that may aid in reproductive planning. In the event that a request for carrier testing on siblings of an affected SMA newborn is made, it is advised. There are a number of potential therapeutic agents that have been found and are at various stages of research. Clinical trials continue to be carried out, and translational research on spinal muscular atrophy is very prominent. A thorough discussion of clinical symptoms, diagnosis, molecular genetics, therapeutic development, and therapy is provided in this Review.

Last modified: 2022-08-22 11:20:57