Spinal Muscular Atrophy (SMA) in Children

  • "SMA was listed by the National Institutes of Health as the neurologic disease closest to finding a cure. This is not a coincidence...because the scientific community, SMA research organizations, and families are continuously pushing, dreaming and working toward a cure."

    Basil Darras, MD, Director, Neuromusuclar Program, Associate Neurologist-in-chief, Clinical Services, Boston Children's Hospital

    About SMA

    Learning that your child may have spinal muscular atrophy (SMA) can be a challenging experience. We understand that your child is important to you, and that you want your child to have the best quality of life possible. Our multidisciplinary team evaluates the complications and benefits of different supportive care options and empowers you with comprehensive and honest information to help you decide what is best for your child. SMA is a genetic condition in which muscles throughout the body are weakened because cells in the spinal cord and motor nerves do not work properly.

    Here’s what you need to know about spinal muscular atrophy (SMA):

    • SMA is the number one genetic cause of infant mortality.
    • About 10 to 16 out of every 100,000 children are born with SMA.
    • There are three types of SMA that vary greatly by age at onset and severity. SMA type is determined by the highest motor function the child achieves.
      • Type I is a severe form of SMA (Werdnig-Hoffmann Disease): Children have limited movement and cannot sit without support, have labored breathing, and have trouble feeding and swallowing. Symptoms emerge within months after birth.
      • Type II is an intermediate form of SMA. Individuals with Type II may sit unsupported at some point but cannot walk independently. Symptoms typically emerge between 6-18 months of age.
      • Type III is a milder form of SMA (Kugelberg-Welander Disease). Individuals with Type III achieve the milestone of walking but may walk with difficulty because weakness is prevalent, and some individuals may eventually need to use a wheelchair. Symptoms typically appear later than 18 months of age and may occur in early childhood.
    • The life expectancy for children with SMA depends on the type of SMA they have. Children with Type I have a life expectancy of less than 2 years if not supported with mechanical ventilation, children with Type II have an intermediate life expectancy, and individuals with Type III may have a normal life expectancy.
    • Individuals with symptoms of SMA can be diagnosed by genetic (DNA) testing at any age.

    How Children’s Hospital Boston approaches Spinal Muscular Atrophy

    Here at Children’s, we bring together experts across medical disciplines to evaluate your child’s specific needs and circumstances. Individuals with SMA and their families benefit greatly from a multidisciplinary approach to care. We recognize that your child is an individual, and we will involve you in your child’s care at every step of the way.

    At our Spinal Muscular Atrophy Clinic in the Department of Neurology, a multidisciplinary team gathers to focus on all the needs of the children we meet with SMA. Our program also gives you a chance to speak with other families experiencing similar challenges you're going through.

    The first in childhood neurology

    The Spinal Muscular Atrophy Program is one of the many programs of the storied Neurology Department at Children’s. In 1920, Bronson Crothers, MD, was one of the pioneers of Child Neurology and was appointed to lead the nation’s first pediatric Neurology Service. Today, Children’s holds the #1 ranking in the U.S. News & World Report in Child Neurology and Neurosurgery.

    Spinal Muscular Atrophy: Reviewed by Basil Darras, MD

    © Children’s Hospital Boston; posted in 2011

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