Duchenne Muscular Dystrophy Flashcards
What is Duchenne Muscular Dystrophy (DMD)?
Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder characterised by progressive muscle degeneration and weakness due to the absence of dystrophin, a protein that helps keep muscle cells intact.
What causes DMD?
DMD is caused by mutations in the DMD gene located on the X chromosome, which is why it primarily affects males.
What are the signs of muscle weakness in DMD?
Muscle weakness begins in early childhood, usually between ages 3 and 5, affecting the muscles of the hips, pelvic area, thighs, and calves first.
What motor skills difficulties are associated with DMD?
Children may have trouble running, jumping, and climbing stairs, and may exhibit an unusual gait, such as a waddling walk or using the Gower’s manoeuvre to get up from the floor.
What is pseudohypertrophy in DMD?
Pseudohypertrophy refers to enlarged calf muscles due to fatty deposits replacing muscle tissue.
What skeletal issues can develop in DMD?
Scoliosis, or curvature of the spine, can develop as the muscles weaken.
What respiratory issues are associated with DMD?
Progressive weakening of the respiratory muscles can lead to difficulty breathing and respiratory failure.
What cardiac condition is related to DMD?
Cardiomyopathy, or heart muscle disease, can lead to heart failure.
What is a common symptom of fatigue in DMD?
Increased fatigue due to muscle weakness and respiratory issues.
How is DMD diagnosed?
DMD is confirmed through genetic testing to identify mutations in the DMD gene and sometimes through muscle biopsy to examine muscle tissue for the presence of dystrophin.
What medications are used in the management of DMD?
Corticosteroids like prednisone can help slow muscle degeneration and improve strength.
What role does physical therapy play in DMD management?
Regular physical therapy is important to maintain muscle function and mobility.
What assistive devices may be used for individuals with DMD?
Braces, wheelchairs, and other devices support mobility.
What type of respiratory support may be needed in DMD?
Non-invasive ventilation or other respiratory support as needed.
What surgical interventions might be necessary for DMD patients?
Surgery may be required to correct scoliosis or other skeletal deformities.
