Diagnosis | Duchenne Muscular Dystrophy

Diagnosis

Due to the defect of the muscle cell membrane, a strong increase of creatine kinase, an enzyme of the muscle, in the blood of those affected is already apparent from birth. The neurological examination shows a muscle weakness without sensory disturbances or muscle twitches, the reflexes are weak or extinguished. The EMG (electromyography) shows a picture typical of muscular dystrophies.

The human genetic examination of a blood sample can detect the defect in the genetic material, but in about 30% of cases this detection is not possible. In such cases, the microscopic examination of a tissue sample after a muscle biopsy (sample collection) allows the diagnosis to be made by showing the absence of dystrophin in the muscle cell after a special staining method. After the diagnosis has been made, the heart should be examined with ultrasound and ECG in order to detect damage at an early stage.

Therapy

A causal therapy of Duchenne dystrophy is currently not possible, all hope lies in a future gene therapy. Therefore, it is important to treat the symptoms and to ensure a maximum quality of life for the affected patients for as long as possible. This includes massage, warm baths, and measures to keep the patient breathing as long as possible (coughing exercises, singing, breathing training).

Physiotherapy and training must be carried out very carefully in order to avoid additional damage to the musculature through overloading, but are useful to avoid stiffening. There are several studies which investigate the possibility to influence the course of Duchenne muscular dystrophy favorably by the administration of drugs. This research is currently ongoing and therefore no general statements can be made at this point.

Surgical measures can correct bad posture and improve movement restrictions. In any case, human genetic counselling of affected families is advisable, for example to clarify the risk of further children falling ill. Linking up with interest groups can help those affected to cope with life with the disease, to make contact with other affected persons and to be informed about current research.