These and other advances in medical technology have changed the standard of care for patients with spinal muscular atrophy. Several candidate treatment agents have been identified and are in various stages of development. Treatment strategies have been developed to use the unique genomic structure of the SMN1 gene region. Although no medical treatment is available, investigations have elucidated possible mechanisms underlying the molecular pathogenesis of the disease. It is caused by homozygous disruption of the survival motor neuron 1 ( SMN1) gene by deletion, conversion, or mutation. Spinal muscular atrophy is an autosomal recessive neurodegenerative disease characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalised weakness.
0 Comments
Leave a Reply. |