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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.

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/content/papers/10.5339/qproc.2020.NMD.14
2020-09-15
2020-11-30
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http://instance.metastore.ingenta.com/content/papers/10.5339/qproc.2020.NMD.14
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