Updates on Management of Spinal Muscular Atrophy (SMA) in infants & children
20 Mar 2021
About the event
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder and the most common fatal inherited disease of infancy resulting from a genetic mutation in the SMN1 gene located on chromosome 5q13. Patients with SMA experience hypotonia; progressive muscle weakness and respiratory failure resulting from loss of motor neurons in the spinal cord anterior horn cells. High incidence in the Middle East; which is thought to be related to the increased rate of consanguineous marriages in the region. The available treatments are able to slow disease progression or prevent disease development if used prior to symptoms development; nevertheless; multidisciplinary management and support is required to treat the complications of the disease
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