Spinal Muscular Atrophy (SMA) | Diagnosis and Treatments

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Contact the Spinal Muscular Atrophy Program

How is spinal muscular atrophy diagnosed?

Spinal muscular atrophy (SMA) is sometimes difficult to diagnose, as symptoms can resemble other conditions or medical problems. Doctors usually diagnose SMA after a child has muscle weakness and decreased muscle tone.

If your clinician suspects SMA, he or she may use the following tests to diagnose the condition:

  • genetic blood tests
  • an electromyography (EMG) test that measures the electrical activity of a muscle or a group of muscles (in some cases)
  • a creatine kinase (CPK) test (to distinguish from other types of neuromuscular diseases, if necessary)

What are the treatment options for spinal muscular atrophy?

Treatment of SMA consists mainly of managing the symptoms, providing respiratory support as needed and preventing disease complications. Recently, however, discovery of the genetic cause of SMA has led to the development of a drug called nusinersen (brand name Spinraza). The drug, which will become available starting in 2017, has been shown in clinical trials to improve some children’s motor function. Read more

Expert care for spinal muscular atrophy

The Spinal Muscular Atrophy Clinic at Boston Children’s brings together a team of specialists who are experienced in caring for children with SMA.

We hold a dedicated SMA clinic once a month so that your child can receive all of his or her SMA-related care in a single visit. This approach means that our various specialists can all work closely with your family to make sure your child’s care is well coordinated.

Boston Children’s is so much more than a hospital—it’s a community of researchers, clinicians, administrators, support staff, innovators, teachers, patients and families, all working together to make the impossible possible. ”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital
300 Longwood Avenue, Boston, MA 02115
For Patients: 617-355-6000
For Referring Providers: 844-BCH-PEDS | 844-224-7337