Duchenne Muscular Dystrophy • Causes, Symptoms & Treatment

Duchenne muscular dystrophy is an inherited muscle disease that affects almost exclusively boys and leads to progressive muscle wasting and even respiratory paralysis. The life expectancy of those affected is shortened. Learn more about causes, symptoms, and treatment options.

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What is Duchenne muscular dystrophy?

Duchenne muscular dystrophy, also known as Duchenne muscular dystrophy (DMD), is rare but the most common progressive muscular disease in childhood: it occurs in about 1 in 3,500 newborn boys. The cause is a genetic defect that leads to increasing muscle weakness, which is usually noticeable in the course of the first year of life. There is no cure for DMD, but its progression can be slowed if diagnosed early.

Duchenne muscular dystrophy is different from Becker muscular dystrophy (BMD). This has a significantly milder and slower course than DMD.

Causes of Duchenne muscular dystrophy

DMD belongs to a group of muscle disorders called dystrophinopathies. These are characterized by the absence (or – in the case of BMD – a deficiency) of the muscle protein dystrophin. This protein contributes to the stability and structure of muscle fibers – its absence triggers progressive muscle weakness.

The reason for Duchenne muscular dystrophy is a mutation in the so-called dystrophin gene. This is on the X chromosome, i.e. the sex chromosome. Since women have two X chromosomes, they are usually not affected by DMD: even if one of them is defective, a second, healthy X chromosome is still present. However, female carriers (carriers) can pass on the defective chromosome to their sons: In every cell in their body, they have an X chromosome from the mother and a Y chromosome from the father – if the dystrophin gene on the X chromosome is defective, it breaks the DMD in this case with the affected son.

Symptoms: This is how Duchenne muscular dystrophy presents itself

Children with DMD often show delayed motor development as early as the first year of life: For example, they have problems lifting their head, do not actively reach for objects, or leave an overall impression of lack of energy. Sometimes there are also mental and/or language delays in development. Boys with DMD start walking later than other children. Also typical

  • an unsteady and “waddling” gait,
  • frequent falls,
  • difficulty running and climbing stairs,
  • tiptoeing and
  • clearly thickened calf muscles (pseudohypertrophy).

In the further course, the increasing muscle atrophy often leads to a curvature of the spine (scoliosis). In addition, respiratory and cardiac muscles can also be affected by the weakness, which leads to corresponding functional disorders (e.g. cardiomyopathy).

Diagnosis: This is how Duchenne muscular dystrophy is diagnosed

The sooner DMD is diagnosed, the sooner appropriate treatment can be initiated and the disease slowed down. If there is a suspicion, the first step is a blood test: a significantly increased level of the enzyme creatine kinase (CK level) indicates significant muscle damage and confirms the suspicion of Duchenne muscular dystrophy.

However, since an elevated CK value is also present in other muscle diseases, the next step is a genetic test: the corresponding defect on the X chromosome can be detected in eight out of ten sufferers. If the genetic analysis does not provide a reliable diagnosis either, a tissue sample is taken from the affected muscles (biopsy) and examined for the presence of dystrophin.

Treatment of Duchenne muscular dystrophy

DMD is not curable. The treatment of the disease aims to maintain the muscle strength that is still available for as long as possible with the help of physiotherapy – this is all the more successful the earlier the disease is recognized and treated. In order to stay mobile for as long as possible in everyday life, aids such as walking, gripping, eating and dressing aids are often used.

Therapy with drugs such as corticosteroids can prolong walking by up to two years and prevent or delay heart failure. If breathing is impaired, special home ventilators can provide relief.

Duchenne muscular dystrophy: course and prognosis

Duchenne muscular dystrophy progresses rapidly and leads to a severe reduction in life expectancy and quality of life. Most of those affected are dependent on a wheelchair from the age of about 12 years, in the second decade of life a complete need for care is usually reached. Due to limited heart function and respiratory activity, DMD patients used to be no older than 15 to 25 years old, but today, thanks to long-term ventilation, they live to be around 35 years old on average.

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Source: Lifeline | Das Gesundheitsportal by www.lifeline.de.

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