Muscular dystrophy
Muscular dystrophies , also progressive muscular dystrophy ( dystrophia musculorum progressiva ), are a group of muscle diseases . These are hereditary diseases that are caused by mutations in the genome , which usually lead to defects or a deficiency in proteins occurring in the muscles. This consequently leads to muscle weakness and muscle wasting. All muscular dystrophies are characterized by progressive degeneration of the musculature, accompanied by remodeling processes. These changes are summarized as dystrophic changes that can be detected with light or electron microscopy. The individual muscular dystrophies differ in terms of the type of inheritance , the main body regions affected, the age of the disease and the course. There is no known causal treatment that can stop the progression of muscle degeneration.
The dystrophia musculorum progressiva was first described by Wilhelm Erb in 1891 .
Classification
Classification according to ICD-10 | |
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G71.0 | Muscular dystrophy |
ICD-10 online (WHO version 2019) |
The classification of muscular dystrophies can either be based on the traditional clinical distribution pattern, that is, on the basis of the muscles that are primarily affected, or according to genetic criteria. A uniform classification that has become established in the specialist literature does not yet exist.
Diagnosis
The determination 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 the skeletal muscle fibers. Accordingly, the creatine kinase is slightly to significantly increased in most muscular dystrophies ( hyperCKemia ). The determination of serum creatine kinase is considered to be more sensitive and specific than the determination of other enzymes such as aspartate aminotransferase (ASAT), alanine aminotransferase (ALAT) and lactate dehydrogenase (LDH), which are often also elevated. Since the level of serum creatinine kinase differs significantly between the individual muscular dystrophies, it can also be used for differential diagnostic considerations. In addition, an increase in CK can also be the only symptom of muscular dystrophy. This plays a role, among other things, when examining relatives, since an increase in the CK can then possibly provide information on the mode of inheritance.
See also
- Muscular dystrophy network - interdisciplinary network for research into muscular dystrophies
Web links
Individual evidence
- ^ Fritz Broser : Topical and clinical diagnosis of neurological diseases. 2nd Edition. U&S, Munich 1981, ISBN 3-541-06572-9 ; Chapter page 1–180.
- ^ Karl F. Masuhr : Neurology . Hippokrates-Verlag, Stuttgart 1989, ISBN 3-7773-0840-4 , p. 374.
- ↑ Robert Griggs: Muscular Dystrophies. (= Handbook of Clinical Neurology. Volume 101). Elsevier Science, 2011, ISBN 978-0-08-045031-5 , pp. 2-3.
- ^ OMIM , accessed September 1, 2011.
- ^ Anthony A. Amato, Robert C. Griggs: Overview of the muscular dystrophies. In: Robert Griggs: Muscular Dystrophies. (= Handbook of Clinical Neurology. Volume 101). 3. Edition. Elsevier, 2011, ISBN 978-0-08-045031-5 , p. 4.
- ↑ Dieter Pongratz, Stephan Zierz: Neuromuscular diseases. Diagnostics, interdisciplinary therapy and self-help. Deutscher Ärzteverlag, 2003, ISBN 3-7691-1172-9 , p. 73.