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Diagnosis & Treatment

Spinal Muscular Atrophy (SMA)

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How is Spinal Muscular Atrophy (SMA) Diagnosed?

Diagnosis

Symptoms of spinal muscular atrophy (SMA) may be similar to other serious conditions such as muscular dystrophy. As a result, it’s important to get a proper workup if you or your physician suspect your child might have SMA. In New York State, SMA is part of the newborn screening.
Some methods used to diagnose SMA include:

  • Blood tests. A simple genetic test identifies at least 95% of SMA cases. It may also reveal whether your child is a carrier.
  • Electromyography. This procedure records the electrical activity of muscles during contraction and at rest.
  • Nerve conduction velocity studies. These measure the nerve’s ability to send an electrical signal.
  • Muscle biopsy. During this procedure, a small sample of muscle and nerve tissue is surgically removed and examined to see if it shows signs of SMA.

How is Spinal Muscular Atrophy Treated?

Treatments

There is no cure for spinal muscular atrophy. There are, however, three FDA-approved medications that slow the progression of disease.

  • Nusinersen (Spinraza). This injection increases the production of the SMN protein to help maintain motor neurons. It appears to work best in infants and children, especially when it’s started early.
  • Onasemnogene abeparovec-xioi (Zolgensma). Designed for children under age two with infantile-onset SMA, this form of gene therapy replaces the defective SMN gene with a healthy one.
  • Risdiplam (Evrysdi). Like nusinersen, risdiplam helps the body make more SMN protein. It’s taken daily by mouth.

In addition, your child’s medical team may recommend these additional therapies and treatments for SMA to improve quality of life:

  • Physical and occupational therapy. These help to improve posture, prevent joints from stiffening, and slow muscle weakness and shrinkage. Some patients also need speech or feeding therapy to help with problems swallowing.
  • Assistive devices like braces, orthotics, and wheelchairs.
  • Feeding tubes for patients who can’t chew or swallow.

FAQs

FAQs

SMA affects anywhere from one per 8,000 to one per 10,000 people worldwide. About half of those cases are due to SMA Type 1. How common is spinal muscular atrophy?

Thanks to advances in diagnosis and treatment, children with SMA are able to live longer than before. However, life expectancy varies by type. With only supportive care, life expectancy by type is:

  • Type 0: less than six months
  • Type 1: under two years
  • Type 2: 10 to 40 years
  • Type 3: normal lifespan
  • Type 4: normal lifespan

It’s important to remember that survival rates continue to improve, thanks to advances in treatment and respiratory and nutritional care improvements.

The only way to know if you are a carrier for SMA is to undergo a genetic test. This is a simple blood test. It picks up about 95% of all carriers. The American College of Obstetricians and Gynecologists (ACOG) recommends that all women who are pregnant, or plan to get pregnant, be offered carrier screening for SMA.

New York-Presbyterian currently offers clinical trials through its Spinal Muscular Atrophy Clinical Research Center and the Pediatric Neuromuscular Clinical Research Network.

Get Care

Trust New York-Presbyterian for Spinal Muscular Atrophy Treatment

It’s important to know the symptoms of spinal muscular atrophy so that you can seek prompt care for your child. The Neuromuscular Disorders Center at NewYork-Presbyterian/Morgan Stanley Children’s Hospital provides comprehensive care for children with spinal muscular atrophy (SMA). We have a dedicated SMA Clinic, supported by the SMA Foundation, which provides all the care children with SMA and other neuromuscular disorders may need.