September 2026 Pediatric Lecture Series: The Role of a Pediatric Physiatrist in Management of Patients with Dystrophinopathy Today with the Newest Treatments-Session Recording

Video Transcription

Video Summary

Dr. Susan Apkon gave an update on Duchenne muscular dystrophy care, focusing on how new FDA-approved treatments are changing rehabilitation practice. She reviewed the basics of Duchenne, including progressive weakness, loss of ambulation, upper-limb decline, and common developmental, speech, and learning concerns. <br /><br />She then outlined current therapies: corticosteroids remain the standard of care; vamorolone may offer similar benefit with fewer growth and bone side effects; exon-skipping drugs target specific mutations; gene therapy offers one-time delivery of microdystrophin for ambulatory boys, but requires careful screening and monitoring because of serious risks; and givinostat, an oral HDAC inhibitor approved in 2024, may improve muscle outcomes but can cause thrombocytopenia and triglyceride elevation.<br /><br />A major message was that rehab physicians remain essential. Functional measures such as the North Star Ambulatory Assessment, timed stair climb, and upper-limb testing help predict disease progression and guide equipment, orthoses, therapy, and family planning. She also emphasized ongoing roles in contracture management, scoliosis surveillance, pain, exercise guidance, and adult care. Finally, she highlighted newborn screening as a way to improve early diagnosis and reduce healthcare disparities.

Keywords

Duchenne muscular dystrophy

Dr. Susan Apkon

FDA-approved treatments

rehabilitation practice

corticosteroids

gene therapy

exon-skipping drugs

givinostat

newborn screening