FightSMA Spinal Muscular Atrophy Guidebook

Spinal Muscular Atrophy is the leading genetic killer of children under two.

SMA Guidebook

Hi, I’m Bob Leshner. I’m a pediatric neurologist, a neuromuscular clinician, and a clinical trials researcher. I’m at the Children’s National Medical Center in Washington, DC.

I suspect that the reason that you’re watching me right now is because your child, the child of a family member or friend has recently been diagnosed with spinal muscular atrophy. You may never have heard of spinal muscular atrophy before, however it’s important to realize that SMA is the number one genetic killer of children under the age of 2.

What is SMA? Spinal Muscular Atrophy. SMA is a disease of the motor neuron, the cells which are located in our spinal cord, the deep structures of our brain called the brain stem, and these cells send out processes in the peripheral nerve to eventually make contact with the muscles in our arms, our legs, our chest, and our breathing muscles. If there is something wrong, if the anterior horn cells, the motor neurons become sick or die, then the nerve no longer carries the trophic message, the life-giving message to the muscles, and the muscle cells atrophy and die, thereby the term Spinal Muscular Atrophy.

SMA is a genetic disease, and like many genetic diseases, it has a tremendous spectrum of involvement. There are almost infinite different variations of severity, the age of onset, and the ultimate prognosis of children and young adults. But for the sake of convenience, we think in terms of categorization of Type 1, Type 2, Type 3, and Type 4 SMA. In type 1 SMA, the most severe form of the disease, symptoms are present before the age of six months and these children never acquire the power, the strength, and the endurance to sit independently, to crawl, or walk. The greatest threat to their life and limb are respiratory complications, which we’ll discuss in just a bit. The child with Type 2 SMA usually has symptoms which are clinically apparent between the ages of 6 months and 18 months of age, and these children acquire the ability to sit independently, but never acquire the ability to walk. Type 3 and Type 4 SMA patients typically have the onset of symptoms after the age of 18 months, and oftentimes decades later. These children and young adults walk, and they are much less susceptible to some of the other types of complications we’ll be talking about with Type 1 and Type 2 children, and therefore constitute a far more benign clinical spectrum.

We hope that you will take advantage of the other sites on this website, to learn more about the scientific basis of our knowledge of SMA, become conversant with the potential treatment strategies which are currently being utilized in various sites across the country, many of which are being sponsored by FightSMA, and that you will feel free to contact us if there are questions, problems to which you cannot find an adequate answer. We can’t promise that we’ll be able to answer every question with divine intelligence, but we’ll do our best to find the information to meet the needs of you and your children.

Special thanks to Metro Productions for the pro bono production of Dr. Leshner’s video.

The pages linked above contain the most up-to-date information available about spinal muscular atrophy, or SMA. Much of it is prepared for FightSMA by Dr. Robert T. Leshner, M.D., Professor of Neurology and Pediatrics at Children’s National Medical Center. Think of it as your field manual as you confront the disease.

In addition to our Scientific Advisory Committee, we have also created a list of leading pediatric neurologists and other specialists recommended by our scientific advisors and SMA families.

After you have reviewed this information, please let us know if there are ways we can expand these resources to better serve you in the future.