Families Experience Continued Delay in Getting a Diagnosis of Duchenne Muscular Dystrophy

A baby taking his first steps with the help of his mother

Early screening, identification, and diagnosis of muscular dystrophies enable children and families to get the services and support they need as soon as possible.

In a study using updated data from CDC’s Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), researchers found that it takes 2.2 years for families without a family history of Duchenne muscular dystrophy (DMD) to receive a diagnosis of DMD. Early screening, identification, and diagnosis of muscular dystrophies enable children and families to get the services and support they need as soon as possible.

Read a summary of the scientific findings.

Main Findings

  • Researchers found an average delay of 2.2 years from when parents first noticed signs of physical developmental delay in their child to when their child was diagnosed with DMD. This time interval has not significantly improved in the past 30 years.
  • On average, children were diagnosed with DMD at 5 years of age.
  • Family members and primary caregivers were the most likely to first note concerns, followed by the child’s primary medical care provider.

About This Study

CDC’s MD STARnet collects critical information about muscular dystrophies for researchers to use to improve care for those living with the disease. MD STARnet collects information from medical clinics, as well as other sources, including hospitals and birth and death certificates.

About Muscular Dystrophies

Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. Each type of muscular dystrophy is different from the others. It is important to get diagnosed as early as possible. Muscular dystrophy has no cure, but an earlier diagnosis may help an individual with muscular dystrophy get earlier access to the services and treatments they need to lead a full life.

Child has trouble getting up animation

Parents: Use this tool to help address concerns about your child’s physical development.

In collaboration with the American Academy of Pediatrics, CDC has developed a web-based tool for parents who are concerned about the physical development of their child. Parents can identify “red flags” they see when their child stands, walks, climbs stairs, holds toys, and does other activities.

Our Work

Although much has been accomplished, important research questions remain to ensure people living with muscular dystrophies reach their full potential. CDC’s National Center on Birth Defects and Developmental Disabilities (NCBDDD) is working to estimate the number of people with each major kind of muscular dystrophy in the United States. This will enable a better understanding of how common muscular dystrophies are, the potential benefit of certain medicines and therapies, and the mental health of people living with muscular dystrophies. NCBDDD is also working to improve the health and quality of life for individuals with muscular dystrophies by partnering with healthcare professionals, university researchers, patient organizations, and state health departments to help clinicians provide the best possible care to people with DMD and enhance early screening, identification, and diagnosis of muscular dystrophies.

Resources for Parents

As a parent, you know your child best. If your child is not meeting the milestones for their age, or if you think there could be a problem with the way your child plays, learns, speaks, acts, or moves, talk to your child’s doctor and share your concerns. Early screening, identification, and diagnosis of muscular dystrophies enable children and families to get the services and support they need as soon as possible.

More Information

 Reference

Thomas S, Conway KM, Fapo O, Street N, Mathews KD, Mann J, Romitti PA, Soim A, Westfield C, Fox DJ, Ciafaloni E, Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). Time to Diagnosis of Duchenne Muscular Dystrophy Remains Unchanged: Findings from the Muscular Dystrophy Surveillance, Tracking, and Research Network, 2000-2015. Muscle & Nerve. 2022. [epub ahead of print]