Dr. Chapa’s OBGYN Clinical Pearls Refresher of Genetic MD
Nov 21, 2025
Discover the intricate world of muscular dystrophy, particularly Duchenne and myotonic forms. Learn about the significance of prenatal carrier screening and its role in identifying risks. Dr. Chapa dives into the genetics and varying severity of these conditions, shedding light on manifesting carriers and their cardiac health. The episode offers insights on dystrophin's function and explores follow-up protocols for carriers, emphasizing the importance of monitoring and counseling. A deep dive into genetics that enlightens and educates!
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Clinical Case That Prompted The Review
- Dr. Chapa described a recent patient who was an asymptomatic muscular dystrophy carrier with multiple affected sons.
- He explained they performed an amniocentesis and opportunistic postpartum self-injection at the patient's request.
Same Gene, Different Severity
- Duchenne and Becker are allelic X-linked disorders from the same dystrophin gene but differ in severity and onset.
- Duchenne presents earlier and more severely while Becker produces some dystrophin and a milder, later course.
Use Expanded Carrier Panels When Indicated
- Offer expanded carrier screening (ACMG Tier 3) when family history or suspicion exists because MD is not in the routine core screen.
- Recognize SMA is tier one but DMD/Becker require an expanded panel to detect carrier status.