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 patients with DMD involves early diagnosis, steroid treatment, consideration of mutation-specific therapies like exon skipping or gene therapy, and consistent monitoring by a multidisciplinary clinical team.
A panelist discusses how a 16-year-old patient with DMD shows more rapid disease progression despite early steroid treatment, with early onset cardiac issues, scoliosis, and increasing upper limb weakness requiring comprehensive specialist care.
A panelist discusses how older patients with DMD might benefit from newer genetic therapies including gene therapy and exon skipping, though eligibility depends on specific mutations and absence of pre-existing immunity to AAV vectors.
A panelist discusses how DMD progression affects different muscle groups over time, with the most serious complications involving respiratory and cardiac muscles, necessitating specialized care from pulmonologists and cardiologists.
A panelist discusses how ongoing research into next-generation DMD therapies aims to improve delivery methods, develop better vectors that can carry larger dystrophin genes, and determine optimal treatment timing, with evidence suggesting earlier intervention may be more effective.
An expert discusses how a 13-year-old boy with Duchenne muscular dystrophy faces the challenging transition to complete loss of ambulation, emphasizing the importance of gradual introduction of assistive devices and psychological support during this developmentally difficult period.
An expert discusses how a 13-year-old boy with Duchenne muscular dystrophy faces the challenging transition to complete loss of ambulation, emphasizing the importance of gradual introduction of assistive devices and psychological support during this developmentally difficult period.
An expert discusses how genetic therapies like exon skipping and gene transfer aim to restore dystrophin function but face challenges in delivering complete protein restoration and achieving equivalent effectiveness across skeletal, cardiac, and pulmonary muscles.
An expert discusses how treatment for the 13-year-old patient should optimize standard care with cardiac and pulmonary monitoring while considering newer therapies like givinostat and casimersen, plus exploring research trials for gene transfer and muscle health approaches.
An expert discusses how a 16-year-old postambulatory DMD patient exemplifies typical challenges including social withdrawal and increasing care needs, emphasizing the critical importance of comprehensive interdisciplinary care teams despite families' perceptions of limited treatment options.
An expert discusses how proactive cardiac care should begin at diagnosis with regular monitoring, while pulmonary function typically peaks around age 8 to 10 before declining, requiring early intervention with breathing exercises and assistive devices before problems become severe.
An expert discusses how older Duchenne muscular dystrophy patients in advanced stages face uncertainty regarding newer therapies since most research focuses on younger children, but gene therapy and other treatments remain considerations alongside comprehensive specialty care for managing complex comorbidities.
