Introduction to SMA
Dr. Darryl De Vivo provides an overview of SMA, including the cause and symptoms associated with SMA types I, II, III and IV.
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.
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- ID: 16909
- Source: DNALC.SMA
- Download: MPEG 4 Video
Dr. De Vivo discusses the diagnosis of SMA.
Frank, an SMA parent, describes the genetics of SMA.
Dr. Sumner explains what causes SMA.
Dr. De Vivo describes the disease progression for different SMA types.
Dr. Sumner explains how SMA is related to changes in the SMN1 and SMN2 genes.
Dr. De Vivo explains how therapies have dramatically increased the lifespan of SMA patients.
Ron and Debbie talk about their son’s diagnosis with Type II SMA.
Drs. Sharp and Krainer explain how genes can be alternatively spliced.
An animation shows how antisense oligonucleotide therapy for SMA utilizes RNA splicing.
Dr. Krainer explains the science behind antisense therapy for SMA.