A REVIEW ON SPINAL MUSCULAR ATROPHY: FROM GENETIC DEFECT TO TARGETED THERAPY

Registration ID: IJNRD_326895

Published ID: IJNRD2607078

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ARLIN NEWZINA A, JARMEE M, ISHWARYA S, SOUNDARYALAKSHMI M

Spinal Muscular Atrophy, SMN1, SMN2, Nusinersen, Risdiplam, Onasemnogene abeparvovec, MLPA, dPCR, Gene Therapy

Spinal muscular atrophy (SMA) is an autosomal recessive disease that affects the spinal motor neuron SMN1 and SMN2 genes. It occurs by causing depletion or mutation in motor neurons. Delayed diagnosis leads to life-threatening complications and can even cause death. Children have respiratory problems and muscle weakness. Adult patients show symptoms like difficulty in movement and muscle weakness. Based on the onset of Disease, it is further classified into types. Types include type 0 shows at prenatal age of onset, life span up to a few weeks; type 1 shows after 6 months; type 2 takes place during 6-18 months and can survive up to the early twenties; type 3 shows after 18 months, which may lead to loss of motor skills; type 4 arises at adulthood and shows weakness in muscles. The diagnosis of SMA is done through dPCR. Eventually, MLPA is a technique that is also used in the identification of SMA. The MLPA kit consists of targeted probes for SMN1 exons 7 & exon 8, and a sequence that recognises exons in both the SMN1 and SMN2 genes. MLPA can be done through commercial kits that are available in markets. Several clinical trials are being done to treat SMA. Nowadays, the therapies are focusing on increasing the amount of SMA proteins in the patient’s body. In such a way, the newly addressed treatment includes 3 therapies: nusinersen, onasemogene abeparvovec – xioxi, and risdiplasm are administered orally to the patients.

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ARLIN NEWZINA A, JARMEE M, ISHWARYA S, & SOUNDARYALAKSHMI M (July-2026). A REVIEW ON SPINAL MUSCULAR ATROPHY: FROM GENETIC DEFECT TO TARGETED THERAPY. INTERNATIONAL JOURNAL OF NOVEL RESEARCH AND DEVELOPMENT, 11(7), a779-a792. https://ijnrd.org/papers/IJNRD2607078.pdf

Volume 11 Issue 7, July-2026

Pages : a779-a792

Paper Reg. ID: IJNRD_326895

Published Paper Id: IJNRD2607078

Research Area: Biological Science

Author Type: Indian Author

Country: Perambalur, Tamil Nadu, India

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