Duchenne muscular dystrophy (DMD) is a common X-linked recessive disorder, which is
caused by deletion, duplication, or point mutations of the dystrophin gene. This article
discusses genetic counseling and prenatal diagnosis in DMD and highlights the need
for confirmation of diagnosis by molecular studies in the index case for future prenatal
diagnosis. It also addresses how the family can be provided prenatal diagnosis, if
the patient is deceased. These principles are illustrated by four case scenarios.
Keywords
Duchenne muscular dystrophy - Deletion - Duplication - Prenatal diagnosis - Creatine
kinase - MLPA
