Diagnosis and Treatments

Contact Us

Pediatric Neuromuscular Clinic

American Family Children's Hospital

1675 Highland Ave.

Madison, WI 53792

(608) 890-6500

(800) 323-8942

How is SMA diagnosed?

 

If your doctor thinks your child might have SMA, they may order:

  • Genetic testing: This is the most common way to test for SMA. Testing checks for a deletion or variation in the SMN1 gene.
  • Muscle biopsy: This is when doctors take a small sample of muscle to check under a microscope.

How is SMA treated?

 

 

Although there's no cure for SMA, these treatments can help kids who have it:

  • Zolgensma is the new gene therapy that prevents further motor neuron and muscle degeneration by replacing the defective or missing gene (SMN1) that causes Spinal Muscular Atrophy (SMA). The FDA announced its decision about this drug on May 25, 2019. Zolgensma is indicated for patients under the age of 2 years with all types of SMA. Eligible patients cannot have antibodies to the virus, AAV9 or adeno-associated virus 9 as AAV9 is an important part of how Zolgensma works as gene therapy. Zolgensma is provided to the patient during a 60-minute infusion procedure. Only one dose is needed.
  • Nusinersen (or Spinraza™) is a treatment for SMA that was approved at the end of 2016. This medicine makes more protein that should be made by the missing SMN1 gene. Spinraza works by making another gene, the SMN2 gene, look more like the SMN1 gene, so it can produce the needed protein. This is given through a spinal tap. Four doses are given over 2 months, and then every 4 months after that. Studies have shown significant improvement in breathing, motor function, and survival.
  • Gene therapy trials. These are ongoing and have shown promising results in improving overall function in SMA.
  • Breathing support through a mask/mouthpiece or a breathing machine. If a breathing machine is needed, a tube may be placed into the windpipe (called a tracheostomy).
  • Treatments to help kids cough and clear mucus, which can help prevent infections
  • Proper nutrition. Sometimes a feeding tube is place through the nose into the stomach (an NG tube) or directly into the stomach (called a gastrostomy tube, or G-tube). This way, feedings can go right into the stomach.
  • Splint, brace or sometimes surgery for scoliosis
  • Physical therapy and occupational therapy
  • Counseling and support groups