A case of spinal muscular atrophy type 2 in a child: a genetic condition rarely detected in primary care / Siti Mariam Abu Hussain ... [et al.]

• Main Authors: Abu Hussain, Siti Mariam, Shibraumalisi, Nur Amirah, Miptah, Hayatul Najaa, Ramli, Anis Safura
• Format: Article
• Language: English
• Published: Faculty of Medicine 2024
• Subjects: RC Internal Medicine
• Online Access: https://ir.uitm.edu.my/id/eprint/91709/1/91709.pdf; https://ir.uitm.edu.my/id/eprint/91709/; http://jchs-medicine.uitm.edu.my/

Spinal muscular atrophy (SMA) is a neurodegenerative disease affecting 4 out of 10,000 live births. It is an autosomal recessive genetic condition caused by mutations of the survival motor neuron gene 1 (SMN1), located at chromosome 5q. There are five types of SMA, from Type 0 to Type 4. Depending o...