Spinal Muscular Atrophy

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When a child sits up for the first time, it’s time to celebrate. But with spinal muscular atrophy, your child may have difficulty moving their body. Spinal muscular atrophy (SMA) is a condition that affects the nerves that control muscle movements.

Children with spinal muscular atrophy may have delays with their motor skills and other growth milestones. They may even need help with breathing and swallowing.

We know getting a diagnosis of SMA may feel overwhelming. But you and your family are not alone. UVA Children's is the #1 children’s hospital in Virginia. Here, children with genetic conditions get care from a team of experts with special training in treating our youngest patients. You’ll have an experienced team that can provide the full spectrum of treatment for spinal muscular atrophy.

Care for Spinal Muscular Atrophy at UVA

SMA treatment focuses on managing your child's symptoms.

SMA causes weakness in your child’s muscles. It can affect how they move, speak, walk, breathe, and swallow. Without treatment, it gets worse over time (is progressive), and can even lead to death. But new treatments, nutrition, respiratory care, and physical therapy offer hope for your child’s future.

Treating SMA may include:

  • Oral medicine (supports the motor neurons) 
  • Spinal injection (supports the motor neurons) 
  • Gene replacement therapy

Our physical and occupational therapists can help improve your child’s ability to move and function. Your child may need therapy to help with speech and swallowing. They also might need devices, like leg braces or a wheelchair, to help them move and be independent.

What is Spinal Muscular Atrophy?

SMA is a genetic condition. That means your child was born with it.

Your child has a mutation of their survival motor neuron gene (SMN1). This mutation causes a decrease in the amount of a protein that helps the nerves that control their muscles work properly. The nerves can’t get signals from the brain to the muscles.

These nerves control muscles in the arms, legs, chest, face, throat, and tongue. When the muscles don’t get signals from the brain, it leads to weakness and shrinking of muscle. The muscles don't work correctly.

Spinal Muscular Atrophy Symptoms

The symptoms of SMA vary. Symptoms can appear before 6 months, during early childhood, or even as an adult. SMA symptoms might include:

  • Weakness or issues moving the arms or legs
  • Trouble moving or holding up the head
  • Problems with breathing
  • Difficulty swallowing
  • Low muscle tone

Diagnosing SMA 

We usually diagnose SMA using a genetic test. This test looks for the number of copies of the gene that can lead to SMA. A low number means that your baby isn’t creating enough of the protein that maintains their nerves.

We may use other tests, like nerve tests (electromyogram), CT scanning, MRI, or muscle biopsy to rule out other conditions.

If there is a family history of SMA, we can check for SMA while you are still pregnant. We do this by either:

  • Checking the fluid in the womb (amniocentesis)
  • Checking the tissue of the placenta (chorionic villus sampling)

Your Child's Care Team

Our neuromuscular team works closely with providers across UVA Children's to give you a care plan and support for your child's and family's specific needs. Your child's care team may include:

  • Neuromuscular specialists
  • Neurodevelopmental pediatric specialists
  • Nurses
  • Physical therapists
  • Occupational therapists
  • Speech/language therapists
  • Genetic counselors
  • Nutritionists
  • Social workers
  • Education specialists
  • Orthopedics specialists
  • Orthotics/prosthetics specialists
  • Dentists 
  • Pulmonary/Respiratory specialists
  • Gastroenterology specialists
  • Endocrinology/Bone Health specialists
  • Developmental psychologists
  • Research coordinators