Dr. Chapa’s OBGYN Clinical Pearls

Refresher of Genetic MD


Listen Later

Muscular dystrophy (MD) is a group of genetic diseases that affect about 16 to 25 per 100,000 people in the US, with the most common childhood form being Duchenne muscular dystrophy (DMD) and the most common adult form being myotonic dystrophy. The prevalence of DMD is estimated at around 1 in 3,500 live male births. Prenatal carrier screening for this is part of the ACMG Tier 3 expanded carrier panel. This is different from spinal muscular atrophy (SMA). As we recently had a patient who was a MD carrier, with affected male children, who we cared for, we decided to do a quick review of muscular dystrophy: its prevalence, genetics, and evaluation of asymptomatic maternal carriers.1. https://www.mda.org/disease/duchenne-muscular-dystrophy/causes-inheritance2.https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/causes3. https://www.nhs.uk/conditions/muscular-dystrophy/4. ACMG: https://thednaexchange.com/2022/03/30/acmg-carrier-screening-guideline-the-hypothetical-tier-3-panel/#:~:text=The%20goal%20of%20this%20ACMG,1%20in%2040%2C000%20or%20higher.
...more
View all episodesView all episodes
Download on the App Store

Dr. Chapa’s OBGYN Clinical PearlsBy Dr. Chapa’s Clinical Pearls

  • 4.1
  • 4.1
  • 4.1
  • 4.1
  • 4.1

4.1

445 ratings


More shows like Dr. Chapa’s OBGYN Clinical Pearls

View all
On Health for Women by Aviva Romm

On Health for Women

1,356 Listeners

AFP: American Family Physician Podcast by American Academy of Family Physicians

AFP: American Family Physician Podcast

697 Listeners

The Green Room: A Podcast from Obstetrics & Gynecology by Obstetrics & Gynecology (Green Journal)

The Green Room: A Podcast from Obstetrics & Gynecology

66 Listeners

Frankly Speaking About Family Medicine by Pri-Med

Frankly Speaking About Family Medicine

261 Listeners

The Curbsiders Internal Medicine Podcast by The Curbsiders Internal Medicine Podcast

The Curbsiders Internal Medicine Podcast

3,360 Listeners

Evidence Based Birth® by Rebecca Dekker, PhD, RN

Evidence Based Birth®

1,040 Listeners

Health By Heather Hirsch by Heather Hirsch

Health By Heather Hirsch

226 Listeners

CREOGs Over Coffee by CREOGs Over Coffee

CREOGs Over Coffee

554 Listeners

As a Woman by Natalie Crawford, MD

As a Woman

1,109 Listeners

You Are Not Broken by Kelly Casperson, MD

You Are Not Broken

1,110 Listeners

The Critical Care Obstetrics Podcast by Clinical Concepts in Obstetrics

The Critical Care Obstetrics Podcast

221 Listeners

The Cribsiders by The Cribsiders

The Cribsiders

318 Listeners

Dr. Streicher’s Inside Information: Menopause, Midlife, and More by Lauren Streicher, MD

Dr. Streicher’s Inside Information: Menopause, Midlife, and More

380 Listeners

OvaryActive by Dr Rebecca Dunsmoor-Su, Dr Amy Voedisch

OvaryActive

85 Listeners

Dr. Chapa's OBGYN No Spin Podcast by Hector Chapa

Dr. Chapa's OBGYN No Spin Podcast

22 Listeners