Muscular dystrophy

Muscular dystrophy, and progressive muscular dystrophy ( progressive muscular dystrophy ), are a group of muscle diseases. These are genetic disorders that are caused by mutations in the genetic material, which usually lead to defects or to a lack of occurring in muscle proteins. This consequently leads to muscle weakness and wasting. All muscular dystrophies are accompanied, characterized by progressive (progressive ) degeneration of the muscles with remodeling processes. These changes are summarized as dystrophic changes that can be detected light or electron microscopy. The individual muscular dystrophies differ in the nature of inheritance, the body regions mostly affected, the disease age and leveling. A causal treatment option that can stop the progression of muscle degeneration is not known.

Classification

The classification of the muscular dystrophies can either traditionally by clinical distribution pattern that is based on the preference affected muscles, or for genetic tests done. A uniform classification that has prevailed in the literature, there is not yet.

Diagnostics

Measurement of creatine kinase (CK ) in the blood serum can provide a general indication of the presence of muscular dystrophy, since the serum concentration increases with degeneration of skeletal muscle fibers. Accordingly, the creatine kinase is most muscular dystrophies marginally to significantly increased ( HyperCKämie ). Determining the Serumkreatininkinase is considered more sensitive and specific than the determination of other enzymes, such as aspartate aminotransferase ( ASAT), alanine aminotransferase ( ALT) and lactate dehydrogenase ( LDH), which are often also increased. Since the height of the Serumkreatininkinase between the muscular dystrophies partly differs significantly, it can also be used for differential diagnosis. In addition, can also be the only symptom of muscular dystrophy CK increase. This plays a role, inter alia, in the examination of relatives of, since an increase in the CK then optionally can provide an indication of the mode of inheritance.