Torage Shivapour, MD, a neurologist at the University of Iowa Hospitals and Clinics, talks about spinal muscular atrophy:
What is spinal muscular atrophy?
Spinal muscular atrophy is a motor neuron disease and to simplify that for your audience, think of a tree – a tree has roots, trunk, branches, and leaves. For the leaves to be healthy, the rest of the tree should be healthy, in particular, the roots, which are the generator and provide nutrition and energy to the leaves. In spinal muscular atrophy, the motor neurons in the spinal cord – which are the roots – deteriorate and die. As a result of that, the muscle fibers, which depend on the motor neurons to provide them with nutrition and energy, will die. The muscles will become weak and atrophied.
Is this a genetic disease?
Correct, it’s an autosomal recessive gene. By that I mean both parents should carry the gene and the baby should receive the gene from both parents. In other words, to contribute to a baby from both sides, it would be one in four or a 25 percent chance for a baby to get the disease.
Who is affected by spinal muscular atrophy or SMA?
We see children, as I mentioned, the ones that are born from affected parents, and the presentation of the disease would be of four different types and the types are referred to primarily by the age of onset. When you say type 1, the babies are born with the disease which manifests itself within the first few months and the babies usually die by age two years. Type 2, the disease is diagnosed by age 2 and they do poorly through their life. Type 3, the disease is diagnosed in an earlier stage of childhood and they are better than type 2, but they do not do as well. And type 4 is the one that is diagnosed after the age of 35 years.
Can parents learn if their child is affected by spinal muscular atrophy while they are pregnant, so they are prepared when the baby arrives?
Correct. With all the advances in medicine now, by genetic testing, which can be either by amniocentesis or by a simple test referred to as CVS, which refers to chorionic villus sampling, it’s a blood test that’s done and the parents will know if their baby’s affected before birth.
How many babies are affected with spinal muscular atrophy each year?
If you look at the live births in America, it’s supposed to be close to 5 million per year. There are different estimates that from one in 6,000 to one in 10,000 live births are affected with SMA.
Are there different types of spinal muscular atrophy?
The SMA is due to the lack of a gene which produces the protein, which is referred to as the SMN type 1 gene, and the nature of the disease is the same, the clinical presentation is different, so the gene would be absent in all the different types that we talked about.
Is UI Hospitals and Clinics involved in any research with regard to spinal muscular atrophy?
UI Hospitals and Clinics is at the cutting edge of research to identify the pathophysiology and etiology for muscular dystrophy; they are one of the front runners in the nation, and also in the world. In spinal muscular atrophy, at this time, there is no aggressive study or research going on, and to my knowledge, there is no medication being tested or tried. |
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