Duchenne Muscular Dystrophy symptoms in children
Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration and weakness. It predominantly affects boys, with symptoms usually becoming apparent in early childhood. Recognizing the early signs of DMD can lead to prompt diagnosis and intervention, potentially improving quality of life and delaying disease progression.
In the initial stages, children with DMD often exhibit delays in motor milestones. For example, they may take longer than typical to learn to sit, stand, or walk. A common early symptom is muscle weakness in the lower limbs, which can cause difficulty climbing stairs, rising from a seated position, or running. Parents might notice that their child has a waddling gait or appears to “walk on their toes” to compensate for weakness.
Muscle weakness in DMD is typically symmetrical, affecting both sides of the body equally. As the disease progresses, other muscle groups become involved. Children may experience frequent falls or trouble with balance, which become more pronounced over time. Gait abnormalities often lead to a distinctive gait pattern called a “pseudohypertrophy,” where calf muscles enlarge due to fat and fibrous tissue infiltration, giving the appearance of muscular hypertrophy that actually reflects muscle deterioration.
Beyond motor symptoms, children with DMD may exhibit difficulty with fine motor skills such as writing or manipulating objects. As the disease advances, they may experience increased fatigue, especially during physical activity. Some children may also develop learning disabilities or cognitive impairments, as DMD can affect brain function due to the presence of dystrophin in the nervous system.
Progression of DMD often leads to further complications. As muscle strength diminishes, respiratory muscles weaken, increasing the risk of breathing difficulties. Cardiac muscle involvement can result in cardiomyopathy, which may cause heart failure if not managed appropriately. Scoliosis, or curvature of the spine, is another common complication as muscle weakness affects posture and spinal support.
Early diagnosis is crucial, typically involving a combination of clinical examination, family history, and confirmatory tests such as serum creatine kinase (CK) levels, genetic testing for dystrophin gene mutations, or muscle biopsy. Elevation of CK levels is often one of the earliest laboratory signs, sometimes before noticeable symptoms appear.
Management of DMD is multidisciplinary, aiming to slow progression and improve function. Corticosteroids are commonly prescribed to preserve muscle strength, while physical therapy helps maintain mobility. Assistive devices like braces or wheelchairs may become necessary as the disease advances. Regular cardiac and respiratory monitoring are vital components of comprehensive care.
In summary, DMD presents with progressive muscle weakness that begins in early childhood, affecting mobility, posture, and overall health. Recognizing the early signs and seeking timely medical attention can help manage symptoms effectively and provide children with the best possible quality of life despite this challenging diagnosis.
