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oa Spinal Muscular Atrophy Melody in Qatar: Types and Treatment
- Publisher: Hamad bin Khalifa University Press (HBKU Press)
- Source: QScience Proceedings, Congenital Dystrophies - Neuromuscular Disorders Precision Medicine: Genomics to Care and Cure, Sep 2020, Volume 2020, 14
Abstract
Spinal Muscular Atrophies are neurodegenerative disorders that are common in our region. In fact, they are the second most common autosomal recessive disorder. The incidence is 1 per 10,000. Genetically, caused by defects in the Survival Motor Neuron (SMN) gene on chromosome 5q. There are two types of SMN, SMN1 and SMN2. 95% of SMA patients have abnormality in SMN1; whereas SMN2 acts as a phenotypic modifier. The search for a cure has been a long journey. Promising therapeutic options have become available. Despite this progress, management of children/adults with SMA faces some big challenges. The success of the management pathway relies heavily on “multidisciplinary” input and the experience of care providers.
© 2020 The Author(s), licensee HBKU Press.