The Evolving Treatment Landscape of DMD

An expert discusses the evolving treatment landscape of Duchenne muscular dystrophy (DMD), highlighting advances in gene therapy, exon-skipping agents, and novel corticosteroids that aim to slow disease progression, improve muscle function, and enhance quality of life, while emphasizing the growing role of personalized medicine and early intervention in optimizing long-term outcomes.

An expert discusses the critical role of dystrophin in maintaining muscle integrity across multiple systems, explaining how its absence in Duchenne and Becker muscular dystrophy leads to widespread complications—including neurologic, pulmonary, cardiac, gastrointestinal, urinary, and orthopedic issues—driven by chronic muscle damage, inflammation, and fibrosis.

An expert discusses strategies to lower the age of Duchenne muscular dystrophy (DMD) diagnosis, emphasizing the importance of universal newborn screening with the testing of creatine kinase (CK) levels, clinician recognition of motor red flags such as the Gower sign, early neurology referrals, and incorporating CK level testing in cognitive delay evaluations to enable timely therapeutic intervention and improve long-term outcomes.

An expert discusses the typical presentation and diagnosis of Duchenne muscular dystrophy (DMD) around ages 5 to 6, highlighting early signs such as motor delays, Gower sign, and developmental concerns, while emphasizing the importance of newborn screening, clinician awareness, and developmental monitoring to enable earlier intervention and improved outcomes.

Duchenne Muscular Dystrophy progresses with motor delays, varying deterioration rates, and impacts multiple organs, highlighting the need for early intervention.

Explore the comprehensive comorbidities of Duchenne Muscular Dystrophy, including cognitive, respiratory, and nutritional challenges faced by patients.

Duchenne Muscular Dystrophy progresses with motor delays, varying deterioration rates, and impacts multiple organs, highlighting the need for early intervention.

A panelist discusses how a 13-year-old DMD patient with exon 51 mutation who has been on prednisone since diagnosis is transitioning to wheelchair use while maintaining upper limb function.

A panelist discusses how steroid use in DMD patients provides significant benefits in delaying disease progression, particularly loss of ambulation, despite potential side effects including mood disorders, bone weakness, and weight gain.

A panelist discusses how DMD is caused genetically through mutations in the dystrophin gene, with approximately one-third of cases arising from spontaneous new mutations rather than inherited from carrier parents.

A panelist discusses how even very small amounts of dystrophin (as low as 1%) may slow disease progression in skeletal muscles, although the impact on cardiac and respiratory function remains less clear.

A panelist discusses how gene therapy using microdystrophin delivered through AAV vectors shows promise for DMD treatment, though challenges remain with delivery efficiency and determining which patients will benefit most.

A panelist discusses how comprehensive care for DMD patients involves early diagnosis, steroid treatment, consideration of mutation-specific therapies like exon skipping or gene therapy, and consistent monitoring by a multidisciplinary clinical team.