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ID 16909

Introduction to SMA

Description:
Dr. Darryl De Vivo provides an overview of SMA, including the cause and symptoms associated with SMA types I, II, III and IV.
Transcript:
Spinal muscular atrophy is one of the most common neuromuscular diseases that affect infants and children primarily but adults as well. It is a rare disease, like many of the diseases that we deal with by definition, but within that context, it is really one of the most common. In fact, it's the second most common autosomal recessive disease that we deal with, the most common being cystic fibrosis and such. But spinal muscular atrophy in fact is the most common genetic cause of death in infancy so it's really a very serious condition.
Keywords:
Spinal muscular atrophy, SMA, RNA, mRNA, splicing, gene, genetic, DNA, antisense, motor neuron, splice, Type I, Type II, Type III, Type IV, Type 1, Type 2, Type 3, Type 4, survival motor neuron, SMN, SMN1, SMN2, muscular, De Vivo, Columbia, disease, mutation, neuromuscular, spinal cord, neurodegenerative, exon 7
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Creative Commons License This work by Cold Spring Harbor Laboratory is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 3.0 United States License.

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