Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal

Abstract

New developments in the rapid diagnosis and treatment of boys with Duchenne muscular dystrophy (DMD) have led to growing enthusiasm for instituting DMD newborn screening (NBS) in the United States. Our group has been interested in developing clinical guidance to be implemented consistently in specialty care clinics charged with the care of presymptomatically identified newborns referred after DMD-NBS. We reviewed the existing literature covering patient-centered clinical follow-up after NBS, educational material from public health and advocacy sites, and federal recommendations on effective NBS follow-up. We discussed the review as a group and added our own experience to develop materials suitable for initial parent and primary care provider education. These materials and a series of templates for subspecialist encounters could be used to provide consistent care across centers and serve as the basis for ongoing quality improvement. Muscle Nerve 54: 186-191, 2016.

Keywords: Duchenne muscular dystrophy; clinical; follow-up; long-term; management; newborn screening; public health.

FIGURE 1

Projected outcome of 2-tier DMD-NBS in a large state with a high birthrate. The numbers for males with a given DMD status and other muscle diseases were derived from data of the Ohio pilot DMD-NBS program. The results of this pilot provide the following estimates of population frequencies: (a) 1/90 infants with CK >750 U/L; (b) 1/3,800 to 1/4,500 infants with CK > 2,000 U/L; and (c) 1/6291 male infants with DMD gene mutations. Females with DMD gene mutations were not found in the Ohio population-based pilot, thus the frequency of females with DMD mutations (carriers) was estimated as 20% of that in males.