Pioneering information for diagnosis, prognosis and therapy

 

Frowning, laughing, kissing - impossible without muscles. Just like walking, lifting or opening a door. Each person carries more than 600 muscles with them. And although at least one third of our body weight is due to muscles, we rarely consciously perceive the power packs. Usually only after a strenuous sports programme or injury. How important muscles are only really becomes clear when their function is limited for health reasons.

Muscle diseases can break out at any age and with varying intensity. Banal actions, such as squeezing out a lemon, become impossible. There are many reasons for this. A small proportion of muscle diseases are hereditary. In some forms, the functional disorder is caused by the nervous system. Or is caused by a faulty signal transmission between nerve and muscle. In myopathy, on the other hand, the muscle itself is affected by the disease. How can we use our genetic diagnostics to help with hereditary muscle diseases?

How can we use our genetic diagnostics to help with hereditary muscle diseases?
Genetic diagnostics can help to identify hereditary muscle diseases precisely and effectively. Once the causal genetic change has been found, diseases can be subtyped. In this way, patients and their doctors learn more about prognosis and hereditary patterns. There are therapeutic possibilities for some muscle diseases, such as spinal muscular atrophy (SMA) or Duchenne muscular dystrophy. And: With knowledge of the underlying genetic defect and the hereditary pattern, risk carriers within a family can be identified at an early stage. Patients and their relatives receive valuable information on the risk of recurrence if they wish to have children.

Do you have a specific patient case in which you suspect a genetic cause? Then request a diagnosis without detour.

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