spinal muscular atrophy

Spinal muscular atrophy is a severe neuromuscular disease caused by mutations in the SMN1 gene. The mutations cause degeneration of a specific type of nerve cell (motor neurons) in the spinal cord, leading to progressive muscle weakness and paralysis. Spinal muscular atrophy a neurodegenerative disorder . Spinal muscular atrophy is caused by the loss of survival .To improve efficiency the researchers developed a trans-splicing syst . Collectively, the material presented in Part I is a complete primer on basic research topics for spinal muscular atrophy.

For more information on the Spinal Muscular Atrophy Foundation, visit http://www.smafoundation.org or call (646) 253-7100. Mutation in the SMN1 gene cause spinal muscular atrophy, types I-IV. SMN1 mutations lead to a shortage (deficiency) of a protein needed for the survival of motor neurones. Without the spinal muscular atrophy protein motor neurons die. Motor neurons are important for muscle function.

Kugelberg Welander spinal muscular atrophy (also known as Wohlfart-Kugelberg-Welander syndrome or mild SMA) is a milder form of SMA, with symptoms typically presenting after age 18 months. The findings suggest that spinal muscular atrophy is a general disease of splicing. Spinal muscular atrophy (SMA) is caused by deletion or mutation of both copies of the SMN1 gene, which produces an essential protein known as SMN. The severity of SMA is modified by variable copy number of a second gene, SMN2, which produces an mRNA that is incorrectly spliced with deletion of the last exon.