Duchenne muscular dystrophy (DMD)

Duchenne muscular dystrophy (DMD) is a genetic muscle disease characterised by the progressive loss of muscle mass and function. It is the most common form of muscular dystrophy in children and mainly affects boys. Girls can be affected as carriers, but usually do not develop any symptoms.

DMD is caused by a mutation in the dystrophin gene, which is located on the X chromosome.

Symptoms usually begin in early childhood, usually between 2 and 5 years of age. The most common signs include

• Weakness of the pelvic muscles, which leads to difficulties when standing up or climbing stairs.
• Waddling gait (due to muscle weakness in the hip area).
• Enlargement of the calves due to fat and connective tissue deposits (pseudohypertrophy).
• Delayed motor development, such as learning to walk or stand.

As the disease progresses, it can lead to increasing weakness of the skeletal muscles, which ultimately also affects the respiratory muscles and the heart. In later stages, those affected are often dependent on a wheelchair.

Duchenne muscular dystrophy usually progresses rapidly. Most children with DMD lose their ability to walk at around 10 to 12 years of age and develop a reduced quality of life as the disease progresses. In most cases, heart and breathing problems also occur, which can lead to a considerable shortening of life.

There is currently no cure for DMD, but there are various therapies and different medications that can slow down the progression of the disease. Each patient receives personalised care. Neuro-orthopaedic care is provided on an interdisciplinary basis in joint consultations with colleagues from neuropaediatrics and neurology and is followed up.

Physiotherapy and the provision of aids are of great importance in maintaining mobility and preventing contractures. Early diagnosis and intervention can have a positive impact on the course of the disease and improve the quality of life of those affected.