
Sign up to save your podcasts
Or


Screening for spinal muscular atrophy (SMA) should be offered to all women who are considering pregnancy or are currently pregnant. SMA is an autosomal recessive disease characterized by degeneration of spinal cord motor neurons that leads to atrophy of skeletal muscle and overall weakness. Once identified, oral therapy may be started in the neonatal interval for those with the most severe phenotype (SMA-1). However, on Feb 19, 2025, a medical team piloted an investigational PRENATAL protocol as treatment starting in utero! While more data is needed, the results have been incredible. In this episode we will highlight this fascinating therapy which was "parent proposed". Listen in for details!
By Dr. Chapa’s Clinical Pearls4.1
447447 ratings
Screening for spinal muscular atrophy (SMA) should be offered to all women who are considering pregnancy or are currently pregnant. SMA is an autosomal recessive disease characterized by degeneration of spinal cord motor neurons that leads to atrophy of skeletal muscle and overall weakness. Once identified, oral therapy may be started in the neonatal interval for those with the most severe phenotype (SMA-1). However, on Feb 19, 2025, a medical team piloted an investigational PRENATAL protocol as treatment starting in utero! While more data is needed, the results have been incredible. In this episode we will highlight this fascinating therapy which was "parent proposed". Listen in for details!

64 Listeners

2,460 Listeners

3,387 Listeners

1,040 Listeners

235 Listeners

562 Listeners

1,108 Listeners

1,141 Listeners

285 Listeners

227 Listeners

1,622 Listeners

380 Listeners

90 Listeners

22 Listeners

1,193 Listeners