Other Muscular Dystrophy FAQs

Basic information for topics, such as “What is it?,” is available in the About Muscular Dystrophy section. Answers to other Frequently Asked Questions (FAQs) specific to muscular dystrophy are in this section.

Is newborn screening available for MD?

Newborns can be screened for MD, either through genetic testing to look for mutations in MD-related genes or blood testing to determine whether there are elevated levels of substances that indicate MD. However, screening newborns for MD is not routine because MD is not part of the Recommended Uniform Screening Panel (RUSP).

The RUSP is the list of conditions that the secretary of the Department of Health and Human Services (HHS) recommends including in newborn screening programs in the United States.1,2 When selecting conditions for the RUSP, HHS considers whether effective treatments are available for these diseases.1 New treatment options for MD may be more effective at improving a person’s quality of life if the treatments begin earlier.2,3 Also, researchers are interested in understanding the early developmental stages of MD; therefore, studying children with MD in clinical trials can be useful to guide future research and treatment efforts.2

For these reasons, some states are doing pilot studies to see whether newborn screening can reliably identify babies with Duchenne MD and other forms of MD in order to learn whether these conditions should be added to the RUSP.4

Is spinal muscular atrophy (SMA) a type of MD?

SMA is not a type of MD, but it can cause similar symptoms. SMA refers to a group of diseases that damage special nerve cells in the brain stem and spinal cord, which leads to problems controlling movements, breathing, and swallowing. The most common type of SMA is caused by a missing or mutated gene that is responsible for making a protein that nerve cells need to function normally—without this protein, the nerve cells die.5

In 2018, a federal advisory panel recommended that SMA be part of the regular newborn screening process; as of 2020, 32 states had adopted SMA screening for newborns.1

There are currently two FDA-approved therapies to treat SMA. One therapy counteracts the loss of a critical protein that supports motor nerve cell survival, allowing children with severe SMA to survive and acquire new motor skills. A newer therapy introduces the missing gene into motor neurons using a virus to transfer it into cells. Although clinical research results are limited, this single-dose gene therapy seems to normalize motor development in infants with SMA. Additional therapies for SMA are under development.

The National Institute of Neurological Disorders and Stroke leads research on SMA. Learn more on NINDS’s SMA Fact Sheet.


  1. Health Resources and Services Administration. (2019). Recommended uniform screening panel. Retrieved May 13, 2019, from https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html 
  2. Muscular Dystrophy Association. (n.d.). Newborn screening for neuromuscular diseases. Retrieved May 13, 2019, from https://www.mda.org/science/newborn-screening-for-neuromuscular-diseases external link
  3. Bayley, K. L., & Laing, N. G. (2012 July). Is newborn screening for Duchenne muscular dystrophy ethically justifiable? Future Neurology, 7(4), 363–365. Retrieved May 13, 2019, from https://www.futuremedicine.com/doi/10.2217/fnl.12.33 external link
  4. New York State Department of Health. (2019, October). The New York State Department of Health announces Duchenne muscular dystrophy newborn screening pilot. Retrieved March 30, 2020, from https://www.health.ny.gov/press/releases/2019/2019-10-01_dmd_newborn_screening_pilot.htm
  5. National Institute of Neurological Disorders and Stroke. (2019, May). Spinal Muscular Atrophy Fact Sheet. Retrieved April 27, 2020, from https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Spinal-Muscular-Atrophy-Fact-Sheet
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