Child Neurology Society's Brainstorm CNS Brainstorm Episode 16 "Duchenne Muscular Dystrophy" with guest Dr. Michael Lopez
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Mar 23, 2025 Dr. Michael Lopez, a Pediatric Neuromuscular Neurologist at the University of Alabama, dives into Duchenne Muscular Dystrophy (DMD), explaining its genetic underpinnings and early symptoms. He highlights crucial diagnostic signs like elevated CK levels and Gowers' sign. The discussion emphasizes the importance of early diagnosis and explores innovative treatment strategies, including corticosteroids and cutting-edge gene therapies. Lopez also reveals how multidisciplinary care can enhance patient outcomes, promising a brighter future for DMD patients.
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Duchenne Muscular Dystrophy Overview
- Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by pathogenic variants in the dystrophin gene.
- Disruption of dystrophin production leads to muscle membrane instability and progressive limb-girdle muscular dystrophy.
Causes of DMD
- Deletions in the dystrophin gene are the most common cause of DMD, disrupting the reading frame.
- Other pathogenic variants, like single nucleotide variants, can also disrupt dystrophin production.
DMD Symptoms
- DMD typically presents between ages 3-5 with difficulty rising, leg pain, tripping, and falling.
- Incidentally high CK levels (often from liver panels) can also reveal DMD.