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There are many ways you can help children and their families get the care they need.
Here at Boston Children’s Hospital, we specialize in innovative, family-centered care. From your first visit, you’ll work with a team of professionals who are committed to supporting all of your family’s physical and emotional needs. We understand that you probably want to learn more about your child’s diagnosis of SMA in order to be as informed as possible, and to keep your child safe and healthy.
What is SMA?
Spinal muscular atrophy (SMA) is a genetic condition that results in poor motor skills as a result of weakened muscles. Muscles are weakened due to dysfunctional spinal cord cells and motor nerves. SMA impacts voluntary and involuntary muscles (muscles that are not consciously controlled), such as chest muscles, which can affect breathing.
What is the life expectancy of children with SMA?
The life expectancy for SMA depends on the severity of the disease. Children with Type I, also known as Werdnig-Hoffmann Disease, usually develop respiratory failure by 2 years of age without breathing support. Children with Type II may live into their mid- to late-twenties or much older, and for individuals with Type III, also known as Kugelberg-Welander disease, life span of most individuals is not significantly different compared with the normal population.
Is it curable?
Currently there is no known cure for SMA. Treatment consists of managing the symptoms and preventing disease complications. The Spinal Muscular Atrophy Program at Boston Children’s Hospital brings together a comprehensive team of specialists who are experienced in caring for children with SMA. However, there is reason for optimism. The National Institute of Health has selected SMA as the disease closest to treatment from over 600 neurologic disorders. Researchers now understand the genetic cause of SMA, and are working towards developing treatments and cures.
Who’s at risk?
Because SMA is usually a genetically inherited disease, if someone in your family actually has SMA, your chance of being an SMA carrier significantly increases. In most instances, both parents must be carriers for the child to be at risk for having SMA.
How common is SMA?
SMA affects about 10 to 16 out of every 100,000 children born. SMA Type I is diagnosed in children 6 months old and younger, SMA Type II is diagnosed in children 6 to 18 months old, and SMA Type III is diagnosed in children as early as 18 months of age, but can surface as late as adolescence. SMA Types I and II are most prevalent.
If my child has SMA, what are the odds that I will have another child with SMA?
When both parents are carriers of the gene mutation that causes SMA, there is a 25% chance, with each pregnancy, that the child will be affected with SMA; a 50% chance of having a child who would be a SMA carrier (has the gene mutation but never develops the disease); and a 25% chance of having a child who would not have SMA and would not be a SMA carrier.
Symptoms of SMA vary greatly depending on SMA Type. More severe forms of SMA affect more essential functions that are very apparent during the first 6 months of life, and less severe forms of SMA have less severe symptoms that are not noticed until later in life.
How severe are the different types of SMA?
There are three types of SMA: type I, II, and III, and the severity of the diagnosis varies greatly between types and from one person to another. The older and more physically developed your child is at the time of diagnosis, the better his or her prognosis will be. If your child is diagnosed later in life, it is because the symptoms are not as obvious and are less severe, meaning your child has a greater chance for better motor function. Non-life threatening symptoms (such as mild weakness in shoulders and muscles around the hips) may not be diagnosed as symptoms of SMA until a later age. SMA that is diagnosed early in life is diagnosed within months after birth because essential functions such as crying, head control and muscle strength are affected. Since a baby diagnosed with type I early in life would have problems with essential functions, such as breathing and swallowing, their life expectancy would be shorter, without respiratory interventions.
SMA type I, also known as Werdnig-Hoffmann Disease:
SMA type II:
SMA type III, also known as Kugelberg-Welander disease:
SMA is an autosomal recessive disease. This means that, most of the time, both parents must carry the nonworking gene, and that two copies of the gene (one inherited from each parent) are necessary for a child to have the condition.
Individuals have two copies of a gene called “survival of motor neuron” (SMN1 and 2), and in 95 percent of cases, the SMN1 gene is missing (genetic deletion).
People of all ages who show symptoms can be tested through genetic studies, which are typically done from a blood sample, to detect the absence of the SMN1 gene and to confirm the diagnosis of SMA.
When both parents are carriers, there is a one in four (25 percent) chance, with each pregnancy, that they will have a child with SMA. A test to see if parents carry the gene mutation is available in most countries .
After your child is diagnosed with SMA, you may feel overwhelmed with information. It can be easy to lose track of the questions that occur to you.
Lots of parents find it helpful to jot down questions as they arise- that way, when you talk to your child’s team members you can be sure that all of your questions are answered. If your child is old enough, you may want to suggest that he or she writes down questions to ask your health care provider, too.
Here are some questions to help get you started:
Sarah Teasdale, MD, is a pediatrician at Boston Children’s who understands that communication is a critical part of care. Medical jargon can be intimidating for parents, and Dr. Teasdale encourages parents to speak up if they need clarification. She encourages other doctors to explain medical jargon, without “dumbing down” the information. Learn more, and join the conversation on Children’s Thriving blog.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”