[Detection, genetic counseling and phenotype prevention of Duchenne muscular dystrophy]

Area of Science:

• Medical Genetics
• Neurology
• Public Health

Background:

• Duchenne muscular dystrophy (DMD) necessitates early detection and management.
• Identifying female carriers is vital for genetic counseling and prevention strategies.
• Existing literature and local data highlight the need for improved diagnostic and registration processes.

Purpose of the Study:

• To underscore the importance of early diagnosis and central registration for Duchenne muscular dystrophy.
• To emphasize the role of identifying female carriers and providing genetic counseling.
• To evaluate the feasibility and support for newborn screening programs for DMD.

Main Methods:

• Review of literature data on Duchenne muscular dystrophy cases.
• Ascertainment of DMD cases within the Leipzig county.
• Repeated estimation of serum creatine kinase activity and electromyography for carrier identification.

Main Results:

• Approximately 12% of Duchenne muscular dystrophy cases involve secondary affections in brothers.
• Genetic counseling, including for maternal female relatives, could prevent one-third of all cases.
• Serum creatine kinase activity estimation and electromyography are key for identifying heterozygous carriers.

Conclusions:

• Early diagnosis, central registration, and proactive carrier identification are essential for managing Duchenne muscular dystrophy.
• Genetic counseling offers a significant opportunity to prevent DMD cases, particularly through targeting maternal relatives.
• Newborn screening is supported if organizationally feasible; intrauterine sex prediction and selective abortion are options for high-risk pregnancies.