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Duchenne Muscular Dystrophy (DMD) is a severe, progressive genetic disorder characterized by muscle degeneration and weakness. It is one of the most common types of muscular dystrophy, primarily affecting males.
read more about duchenne muscular dystrophy dmd ...DMD is caused by a mutation in the dystrophin gene on the X chromosome. The mutation prevents the body from producing functional dystrophin, a protein necessary for maintaining the structure and strength of muscle fibers.
Early signs include delayed walking, frequent falls, and trouble running or climbing stairs. Children use their hands to push up from the floor, known as Gowers sign. Calf enlargement from fat and scar tissue is common. Weakness progresses from the hips and thighs to the shoulders and arms over time.
Diagnosis involves a physical examination and genetic testing to identify the specific mutation in the dystrophin gene. A blood test showing very high levels of creatine kinase (CK), a muscle enzyme, is also a strong indicator of muscle breakdown.
DMD can have specific ocular manifestations, including the weakening of eye muscles, leading to eye misalignment (strabismus) or difficulty with eye movements. Additionally, some patients may develop cardiomyopathy (heart muscle disease), which can indirectly affect vision through circulatory issues.
Treatment is multidisciplinary and focuses on managing symptoms and improving quality of life. This includes corticosteroids to slow muscle damage, physical and occupational therapy, and, in some cases, targeted genetic therapies.
Currently, there is no cure for DMD, but treatments are continuously improving to manage symptoms and slow progression.
Girls are typically carriers, but they rarely develop symptoms, as they have a second, unaffected X chromosome.
Yes, heart muscle weakness (cardiomyopathy) is a serious complication of DMD that requires proactive management.
Parents should watch for the "Gower's Sign", when a child has to use their hands to "climb up" their legs to stand. If you notice delayed walking or frequent falling, see a pediatric neurologist. Early genetic testing is critical for accessing new gene therapies.
StatPearls. Duchenne Muscular Dystrophy (ncbi.nlm.nih.gov). 2023.
StatPearls. Dystrophinopathies (ncbi.nlm.nih.gov). 2023.
MyoBase. DMD Catalog (myobase.org). 2021.
StatPearls. Gower Sign (ncbi.nlm.nih.gov). 2020.