For Healthcare Providers

Care for people living with Duchenne includes a multidisciplinary team of professionals providing coordinated, comprehensive care. While the Duchenne Care Considerations offer details of the surveillance and management of each medical subspecialty area of care, PPMD has additional tools and resources that may be helpful to you. Please let us know if there are tools and/or resources that you do not see, that you feel might be helpful.

Newborn Screening for Duchenne

About Duchenne & Becker

Duchenne muscular dystrophy is a genetic disorder characterized by the progressive loss of muscle. It is a multi-systemic condition, affecting many parts of the body, which results in deterioration of the skeletal, cardiac, and pulmonary muscles. It affects approximately 1 out of every 5,000 live male births. About 20,000 children are diagnosed with Duchenne globally each year.

Duchenne is caused by a pathogenic variant in the DMD gene that encodes for the dystrophin protein. Without dystrophin, muscles are not able to function or repair themselves properly. Becker muscular dystrophy, which typically has a later onset and slower progression, occurs when dystrophin is manufactured, but not in the typical form or amount.

“Dystrophinopathy” is an umbrella term that describes any condition caused by variants in the DMD gene. In addition to Duchenne and Becker muscular dystrophies, this includes isolated DMD-associated cardiomyopathy and isolated hyperCKemia.

Because the dystrophin gene is found on the X-chromosome, it primarily affects males, while females are typically unaffected carriers. However, some females can manifest varying ranges of physical symptoms of Duchenne and are therefore called “manifesting carriers” or females with dystrophinopathy.

Newborn Screening

Newborn screening for Duchenne and Becker is based on CK-MM, the muscle isoform of creatine kinase, which is highly elevated in babies with Duchenne. CK-MM is only a screen and confirmatory or diagnostic testing is needed to confirm the diagnosis. Each state approaches newborn screening for Duchenne differently. CK-MM can be elevated for many reasons, including other muscle disorders and traumatic delivery.

The American College of Medical Genetics and Genomics (ACMG) has ACT sheets for elevated CK-MM and DMD variants.

  • ACT sheets describe the short-term actions a healthcare professional should follow in communicating with the family and determining appropriate steps in the follow-up of a newborn that has screened positive.
  • Algorithm sheets have an overview of the basic steps involved in determining the final diagnosis in an infant.

ACMG ACT sheets and algorithm can be found here:

Additional Resources for Your Patient Diagnosed Through Newborn Screening

Genetic Testing

It is likely that genetic testing will be needed for your patient or their family members. Genetic testing can be performed for free through PPMD’s Decode Duchenne Program.

  • PPMD’s Decode Duchenne genetic testing program provides free genetic testing and counseling to people in the Duchenne and Becker muscular dystrophy community. Participants must be living in the United States or Canada. PPMD’s certified genetic counselors specialize in Duchenne and Becker muscular dystrophy and are available to both healthcare providers and families at any point during the testing process. Click here to learn more about and order diagnostic testing.
  • Genetic testing can determine whether a woman is definitely a carrier or whether she is very unlikely to be a carrier. Genetic testing is the best method for performing accurate carrier testing. Learn more about carrier testing.

Multidisciplinary Care

Children with Duchenne and Becker need multidisciplinary care:

  • All babies should establish care with a primary care provider (PCP) who will serve as the baby’s “medical home.” The PCP will remain the first-line care provider for routine childhood well and sick care. During infancy and childhood, the PCP evaluates developmental milestones, conducts annual hearing and vision screening, annual physical and mental health exams, and ensures vaccinations are given on a schedule.
  • Although not urgent from a health perspective, it is important for the child to establish care at a multidisciplinary clinic with a neuromuscular specialist (neurology and/or physical medicine and rehabilitation) to monitor for physical symptoms of Duchenne and initiate treatment appropriately. The baby’s neuromuscular specialist (NMS) will lead the management of Duchenne and should coordinate referrals for other appropriate specialists.
    • PPMD’s network of Certified Duchenne Care Centers are centers that are capable of providing comprehensive Duchenne care in agreement with the Care Considerations. Each of these centers include sub-specialists with Duchenne expertise across the spectrum and lifespan of the disease. These centers exist as a resource to both you and your families. If you need assistance in referring to and/or connecting with a Certified Duchenne Care Center in your area or have questions, please email careteam@parentprojectmd.org.
  • For more information about Duchenne visit this page to find care guidelines for Duchenne, academic articles on various topics (including primary care), and pediatric imperatives.
  • There is limited data on what to expect for carriers of Duchenne found on newborn screening. It is unclear how likely they are to have symptoms. Females carriers are not usually diagnosed with Duchenne because they make enough of the dystrophin protein. However, some females can have the classic symptoms of Duchenne or Becker. This is known as a manifesting carrier. While there are tests to see if a female is a carrier of a Duchenne mutation, there are no tests at birth that can show if a female will be a manifesting carrier. All carriers should be evaluated by a healthcare provider familiar with Duchenne. Learn more about Carrier Care.
  • There are multiple FDA-approved therapies for Duchenne muscular dystrophy, with additional potential therapies in development. Click here to learn more about the therapeutic approaches to treating Duchenne. Clinical Trials may also be an option for families to consider.

Surgery and Anesthesia Precautions

A number of safety measures should be considered with surgery and anesthesia.

  • Babies with Duchenne undergoing surgery or a medical procedure should not receive succinylcholine (suxamethonium). Succinylcholine administered to patients with any kind of ongoing muscle atrophy can cause severe, life-threatening increases in blood potassium. Instead of succinylcholine, non-depolarizing neuromuscular blockers can be used in emergency situations if necessary.
  • Babies with Duchenne undergoing surgery or a medical procedure should avoid inhaled anesthetic agents including Desflurane, Enflurane, Halothane, Isoflurane, and Sevoflurane. People with Duchenne are at risk of developing rhabdomyolysis and hyperkalemia which can result in life-threatening heart rhythms. There are certain circumstances when the benefit/risk ratio favors the use of these inhaled agents, such as prior to IV catheter insertion, before Propofol administration, and when IV anesthesia is not available.
  • All intravenous (IV) anesthetic agents are considered to be safe to give to people with Duchenne with close monitoring. List of safe anesthesia medications can be found here.

Developmental Delays

Babies with Duchenne are at increased risk for developmental delays, including gross motor and speech delays as well as autistic features. Early Intervention can be beneficial:

Help Families Get Support

The Duchenne journey is complex, but PPMD is here to support you and your patients.

Related Publications

Newborn Screening

For more information about newborn screening for Duchenne, please see the following publications from Duchenne Newborn Screening pilots:

  • Kucera, K. S., Boyea, B. L., Migliore, B., Potter, S. N., Robles, V. R., Kutsa, O., Cope, H., Okoniewski, K. C., Wheeler, A., Rehder, C. W., Smith, E. C., & Peay, H. L. (2023). Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina. Genetics in medicine : official journal of the American College of Medical Genetics, 26(1), 101009. Advance online publication. https://doi.org/10.1016/j.gim.2023.101009
  • Tavakoli, N. P., Gruber, D., Armstrong, N., Chung, W. K., Maloney, B., Park, S., Wynn, J., Koval-Burt, C., Verdade, L., Tegay, D. H., Cohen, L. L., Shapiro, N., Kennedy, A., Noritz, G., Ciafaloni, E., Weinberger, B., Ellington, M., Jr, Schleien, C., Spinazzola, R., Sood, S., … Duchenne Muscular Dystrophy Pilot Study Group (2023). Newborn screening for Duchenne muscular dystrophy: A two-year pilot study. Annals of clinical and translational neurology, 10(8), 1383–1396. https://doi.org/10.1002/acn3.51829
  • Maloney, B., Park, S., Sowizral, M., Brackett, I., Moslehi, R., Chung, W. K., Gruber, D., Brower, A., Lloyd-Puryear, M., Caggana, M., & Tavakoli, N. P. (2023). Factors influencing creatine kinase-MM concentrations in newborns and implications for newborn screening for Duchenne muscular dystrophy. Clinical biochemistry, 118, 110614. https://doi.org/10.1016/j.clinbiochem.2023.110614
  • Parad, R. B., Sheldon, Y., & Bhattacharjee, A. (2021). Implementation of Hospital-Based Supplemental Duchenne Muscular Dystrophy Newborn Screening (sDMDNBS): A Pathway to Broadening Adoption. International journal of neonatal screening, 7(4), 77. https://doi.org/10.3390/ijns7040077
  • Hartnett, M. J., Lloyd-Puryear, M. A., Tavakoli, N. P., Wynn, J., Koval-Burt, C. L., Gruber, D., Trotter, T., Caggana, M., Chung, W. K., Armstrong, N., & Brower, A. M. (2022). Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot. International journal of neonatal screening, 8(4), 50. https://doi.org/10.3390/ijns8040050
  • Moat, S. J., Bradley, D. M., Salmon, R., Clarke, A., & Hartley, L. (2013). Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK). European Journal of Human Genetics : EJHG, 21(10), 1049–1053. https://doi.org/10.1038/ejhg.2012.301
  • Mendell, J. R., & Lloyd-Puryear, M. (2013). Report of MDA muscle disease symposium on newborn screening for Duchenne muscular dystrophy. Muscle & Nerve, 48(1), 21–26. https://doi.org/10.1002/mus.23810
  • Chien, Y. H., Lee, N. C., Weng, W. C., Chen, L. C., Huang, Y. H., Wu, C. S., & Hwu, W. L. (2022). Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan. Neurological Sciences, 43(7), 4563–4566. https://doi.org/10.1007/s10072-022-06128-2

Babies with Duchenne

For more information on published data on babies with Duchenne, please see the following publications:

  • Connolly, A. M., Zaidman, C. M., Golumbek, P. T., Cradock, M. M., Flanigan, K. M., Kuntz, N. L., Finkel, R. S., McDonald, C. M., Iannaccone, S. T., Anand, P., Siener, C. A., Florence, J. M., Lowes, L. P., Alfano, L. N., Johnson, L. B., Nicorici, A., Nelson, L. L., Mendell, J. R., & MDA DMD Clinical Research Network (2019). Twice-weekly glucocorticosteroids in infants and young boys with Duchenne muscular dystrophy. Muscle & Nerve, 59(6), 650–657. https://doi.org/10.1002/mus.26441
    • This study examined the effectiveness of glucocorticosteroids (GC) in slowing weakness in boys with Duchenne. This study was an open-label trial of twice-weekly prednisolone (5 mg/kg/dose) in infants/young boys (0.4-2.4 years) with Duchenne. Boys treated with prednisolone gained an average of 0.5 points on the Bayley-III gross motor scaled score (GMSS) compared with a historical cohort of untreated boys who, on average, declined 1.3 points. All boys maintained linear growth, and none developed Cushingoid features. Excessive weight gain occurred in 13 of 23 (56%) boys. This study provides evidence that twice-weekly GC is well tolerated in infants and young boys with DMD and improves GMSS. Excessive weight gain is a potential risk. Longer follow-up is required to determine whether early GC initiation is feasible in most infants/boys with DMD.
  • Connolly, A. M., Florence, J. M., Cradock, M. M., Eagle, M., Flanigan, K. M., McDonald, C. M., Karachunski, P. I., Darras, B. T., Bushby, K., Malkus, E. C., Golumbek, P. T., Zaidman, C. M., Miller, J. P., Mendell, J. R., & MDA DMD Clinical Research Network (2014). One year outcome of boys with Duchenne muscular dystrophy using the Bayley-III scales of infant and toddler development. Pediatric Neurology, 50(6), 557–563. https://doi.org/10.1016/j.pediatrneurol.2014.02.006
    • This study reports the 6- and 12-month follow-up of two subsets of 24 infants and boys with Duchenne muscular dystrophy studied with the Bayley-III Scales of Infant and Toddler Development. Gross motor scores were lower at baseline compared with published controls (6.2 ± 1.7; normal 10 ± 3; P < 0.0001) and revealed a further declining trend to 5.7 ± 1.7 (P = 0.20) at 6 months. Repeated measures analysis of the 12 boys monitored for 12 months revealed that gross motor scores, again low at baseline (6.6 ± 1.7; P < 0.0001), declined at 6 months (5.9 ± 1.8) and further at 12 months (5.3 ± 2.0) (P = 0.11). Cognitive and language scores were lower at baseline compared with normal children (range, P = 0.002-<0.0001) and did not change significantly at 6 or 12 months (range, P = 0.89-0.09). Fine motor skills, also low at baseline, improved >1 year (P = 0.05). This study concludes that development can reliably be measured in infants and young boys with Duchenne muscular dystrophy across time using the Bayley-III.
  • Mercuri, E., Seferian, A. M., Servais, L., Deconinck, N., Stevenson, H., Ni, X., Zhang, W., East, L., Yonren, S., Muntoni, F., & 4658-102 Study Group (2023). Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping. Neuromuscular disorders : NMD, 33(6), 476–483. https://doi.org/10.1016/j.nmd.2023.03.008
    • This study analyzed the safety of the exon skipping therapy eteplirsen in young boys with Duchenne over 96 weeks. Eteplirsen was found to be safe and tolerable at the approved 30 mg/kg dose.
  • Kwon, J. M., Abdel-Hamid, H. Z., Al-Zaidy, S. A., Mendell, J. R., Kennedy, A., Kinnett, K., Cwik, V. A., Street, N., Bolen, J., Day, J. W., & Connolly, A. M. (2016). Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal. Muscle & nerve, 54(2), 186–191. https://doi.org/10.1002/mus.25185
    • The Authors summarized existing literature and developed a proposed approach to caring for babies identified on newborn screening.
  • Armstrong, N., Apkon, S., Berggren, K. N., Braun, C., Ciafaloni, E., Connolly, A., Kennedy, A., Kuntz, N., Mathews, K., McGuire, M., Parad, R., Scavina, M., Scharf, R. J., & Waldrop, M. (2024). The Early Care (0-3 Years) In Duchenne Muscular Dystrophy Meeting Report. Journal of neuromuscular diseases, 11(2), 525–533. https://doi.org/10.3233/JND-230180
    • PPMD hosted a Duchenne Early Care meeting as part of the 2023 Duchenne Healthcare Professionals Summit, focusing on key aspects of care for the youngest children in our Duchenne community, in preparation for expanding newborn screening for Duchenne. Bringing together experts, the meeting delved into how to best care for babies and toddlers and how to support families and parents when diagnosis is made in those age groups. Following the meeting, numerous attendees contributed to a report of the discussions, which was accepted for publication in the Journal of Neuromuscular Diseases and will enable the broader community of Duchenne healthcare providers to learn from the discussions.

Carriers

For information about carriers, please see Carrier publications here.