Duchenne Muscular Dystrophy and the Viscoelastic Properties of Upper Limb Muscles

Rövid összefoglaló (regiszter, angolul)

Muscular dystrophies are hereditary and progressive skeletal muscle diseases that cause degeneration and loss of strength in the muscles. The most common form is Duchenne Muscular Dystrophy (DMD), which is X-linked recessive and develops due to a mutation in the dystrophin gene. Dystrophin is a membrane protein found in skeletal muscle, cardiac muscle, vascular smooth muscle, and the brain, functioning as a component of the glycoprotein complex. In the absence of dystrophin, proteases break down the glycoprotein complex, resulting in the loss of membrane proteins, which leads to degeneration and weakness of muscle fibres. In addition to skeletal muscle, involvement of the respiratory and cardiac muscles is the most important cause of morbidity and mortality. Children with DMD are usually diagnosed with abnormal gait, frequent falls, and difficulty climbing stairs. Progressive functional loss is observed over time. Although the disease usually begins in the lower extremities, it eventually affects the upper extremities as well. Early stage: Lower extremity muscles are more affected (walking and climbing stairs become difficult). Advanced stages: Shoulder girdle, arm, and hand muscles begin to be affected. Weakness is particularly seen in the deltoid, biceps, and triceps muscles. There is limited shoulder movement and difficulty raising the arm. Therefore, functional losses are seen in the upper extremities. Functional losses generally cause difficulties in daily living activities; tasks requiring upper limb use, such as dressing, eating, and combing hair, become difficult. Hand skills (fine motor functions) are usually affected later, but distal muscles may also weaken over time. In summary, upper limb muscles weaken in individuals with DMD as the disease progresses. This can affect the individual's daily living activities. Regular monitoring of upper limb function, appropriate rehabilitation programmes, and supportive treatments aimed at improving quality of life are of great importance.

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• Vizsgálat típusa: Megfigyeléses
• Tervezett résztvevők: 56
• 2025. nov. 1. és az elsődleges befejezés (2026. jan. 15.) között
• 1 helyszín, 1 országban
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