Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a genetically based (inherited) neuromuscular disease that disrupts the ability of nerves to communicate with muscles. A child with SMA gradually loses control of most core muscle groups, which grow weak from lack of use. Although there’s no cure for SMA, Nemours neuromuscular specialists offer many treatments and therapies to slow its progression and maximize function.

 
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Four Types of Spinal Muscular Atrophy

There are four types of SMA, based on how severe the symptoms are and when they begin. Generally, the longer it takes for symptoms to start appearing, the less severe the disease will be.

  • SMA type 1 (also called Werdnig-Hoffmann disease) is the most severe, with symptoms starting between birth and 6 months of age. These babies fail to sit or walk.
  • SMA type 2 (or chronic infantile SMA), has more moderate symptoms, which start when a child is six to 18 months old. These infants can sit but not walk.
  • SMA type 3 (Kugelberg-Welander disease or juvenile spinal muscular atrophy) has the mildest symptoms, which can start between 18 months and the teen years. These children do walk but have limitation and may lose skills over time.
  • SMA type 4 develops more slowly, with symptoms usually starting after age 35, with slowly progressive limitation in walking.
How Spinal Muscular Atrophy Develops

Healthy muscles depend on nerve cells called motor neurons to tell them what to do. The motor neurons are located in the brain and spinal cord and carry these instructions from the brain, down the spine, to the muscle. The motor neurons depend on a special protein called SMN (“Survival of Motor Neurons”) to function properly.

People diagnosed with spinal muscular atrophy lack the ability to make this essential SMN protein, because the gene for SMA that makes it possible to produce SMN is either defective or missing. Without sufficient SMN protein the motor neurons lose the ability to carry the brain’s instructions to the muscles. The muscles grow weak from lack of use and waste away (muscular atrophy). Thus the term “spinal muscular atrophy.”

Diagnosing Spinal Muscular Atrophy

Doctors who think a child might have SMA usually rely on various tests and imaging procedures to narrow down the diagnosis. These may include an electromyogram (EMG) and nerve conduction study.

In most cases, when SMA is suspected, the physician goes right to a genetic test (blood test) that checks to see if the gene responsible for producing the SMN protein is defective or missing.

Nemours/Alfred I. duPont Hospital for Children, Wilmington

1600 Rockland Road
Wilmington, DE 19803
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For Appointments: (302) 651-4200

Hours: Monday–Friday, 8 a.m. to 4:30 p.m.

U.S. News & World Report Best Children’s Hospitals: Neurology & Neurosurgery


 
What to Bring
  • photo ID
  • medical and pharmacy insurance cards
  • preferred pharmacy name and phone number
  • names and dosage of all medications, including over-the-counter medication, your child is currently taking
  • guardianship and custody papers, if a legal guardian rather than a parent accompanies your child
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Bring these forms for your first appointment:

Returning Patients
 
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Support Services & Information

CaringBridge: visit this free site offering support and communication to help your family through your child's medical journey

Ronald McDonald House of Delaware: a safe, free, family-centered home away from home when your child is sick and needs to be hospitalized

Plan Your Visit: Learn what to expect when you visit us, from overnight stays to preparing for surgery


Children with SMA need an extra helping of love and care. The pediatric specialists at Nemours/Alfred I. duPont Hospital for Children take a coordinated approach to caring for children with all forms of this inherited disease. Our SMA care is part of a comprehensive Neuromuscular Disease program that is approved and supported by the Muscular Dystrophy Association (MDA).

It takes a team of pediatric professionals working together to care for a child with SMA. At duPont Hospital for Children, you’ll find doctors, counselors, nurses and staff who are uniquely qualified to provide this care, and who share a strong commitment to the long-term health and well-being of your child. Whatever form of this inherited disease your child has, our goal is simple: to treat each child as we would our own.

 
Our Coordinated Spinal Muscular Atrophy Care Team

When you come to duPont Hospital for Children, you get a whole team of professionals devoted to your child’s care. Our SMA experts include:

  • Physicians like the neurologists who establish the diagnosis, consider treatment options and help manage symptoms as SMA progresses. Also neuromuscular disease specialists in rehabilitation, orthopedics, pulmonology and gastroenterology.
  • Therapists like the physical and occupational therapists who help your child remain as strong as possible and manage the activities of daily life. Also specialists in assistive technology to help with mobility and other devices that can help your child function independently.
  • Dietitians who can provide nutritional support and advice.
  • Geneticists to help families understand the genetic basis of SMA and offer counseling to make informed decisions about expanding their family.

The neurology team at duPont Hospital for Children includes a large and varied lineup of neurology professionals, including:

  • full-time and part-time neurologists
  • advanced practice nurses (APNs)
  • a physician assistant (PA)

We can diagnose and treat your child on an inpatient or outpatient basis, providing flexible consultation and care in a variety of neurological areas. And we make every effort to schedule your child’s appointment as quickly as possible.

 
Improving the Quality of Life for Children with Spinal Muscular Atrophy

At duPont Hospital for Children, our coordinated care team will work with your child to ease discomfort, build strength and preserve independent functioning for as long as possible. We’ll treat your child’s SMA in a number of ways, including:

  • Provide physical and occupational therapy to help preserve muscle tone and function.
  • When appropriate, fit your child for orthotics (braces), mobility devices (such as a wheelchair and other assistive devices).
  • Work with your family and caregivers to show you how to prepare nutritious meals that are easier to swallow and digest. If needed, we can also provide mechanical feeding systems to ensure that your child receives ongoing nutrition.
  • Provide medication to help your child’s muscles function optimally.
  • Support your child’s bone structure if orthopedic problems develop.
  • Help your child avoid lung infections and related problems. If needed, we can offer breathing support devices.
  • Provide counseling for your child and family members to help work through the challenges of caring for a loved one with SMA.
 
Advancing Children's Care at the Swank Center for Neuro-Orthopaedics

The Swank Center for Neuro-Orthopaedics at duPont Hospital for Children advances the care of children with cerebral palsy (CP) and other neuro-orthopedic conditions.

The Center helps us provide a variety of services, including:
  • comprehensive care for children with CP and emotional support for their families
  • education and training for practitioners in their care
  • use of advanced technology and orthotics to improve daily living
  • support for research to develop new and better therapies and assistive devices

Family-Centered Care at duPont Hospital for Children

When you come to duPont Hospital for Children, you get a whole team of professionals — like an extended family — devoted to your child. We keep you clued in every step of the way — and offer amenities to keep you and your family comfortable when you need to stay with us.

Every member of your child’s care team will have secure access to your child’s medical information, with just the click of a button. Our award-winning electronic medical record makes it easy for everyone to always stay on the same page about your child’s care — at the same time.


We Value Your Involvement in Your Child's Care

We may know how to treat your child’s SMA, but no one knows your child better than you. That’s why we want you to be an active participant in the decision-making process for your child’s treatment. We’ll explain every step in easily understandable terms, present all options including alternative methods, and invite your input. We also maintain a physician hotline for families. If your child is undergoing treatment at duPont Hospital for Children, you’ll be able to reach your Nemours neurologist or the physician on call anytime, day or night.

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