Becker-Kiener muscular dystrophy
Classification according to ICD-10 | |
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G71.0 | Muscular dystrophy |
ICD-10 online (WHO version 2019) |
The Becker's muscular dystrophy , and Becker muscular dystrophy , named after the first person to describe Peter Emil Becker , is a genetic disorder that the group of muscular dystrophies belongs. Due to an X-linked inheritance, the disease almost exclusively affects males and occurs with a frequency of approx. 1: 20,000. About a third of the sick have a new mutation. As with Duchenne muscular dystrophy , the gene on the X chromosome , which codes for the muscle structure protein dystrophin , is defective. In contrast to Duchenne dystrophy, there is no raster shift , so that a less functional protein is formed. Due to the formation of this “residual protein”, the course is more benign than in Duchenne muscular dystrophy. On average, the age of onset is later, mostly in school age (range from 2 to 30 years of age). Here, too, the pelvic girdle and later the shoulder girdle muscles are particularly affected. Due to the transformation of skeletal muscles into fat and connective tissue, the muscles usually do not appear atrophic despite their weakness. The course is very variable, but the majority of those affected can lead a relatively normal life. Life expectancy is reduced to around 40 years if the course is less favorable, but it can also be almost normal. Cardiomyopathy can cause complications .
The diagnosis is based on anamnesis and family history, clinical examination, increased creatine kinase in the serum, a myopathic pattern in electromyography and the detection of typical remodeling processes in a muscle biopsy. Genetic diagnostics are possible. Becker-Kiener muscular dystrophy cannot be cured; Physiotherapy plays an important role in symptomatic therapy.
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- Thomas Klopstock, Dieter-Erich Pongratz: Myopathies. In: Thomas Brandt, Johannes Dichgans, Hans Christoph Diener (eds.): Therapy and course of neurological diseases. 5th edition. Kohlhammer, Stuttgart 2007, ISBN 978-3-17-019074-0 .
- Jan Murken, Tiemo Grimm, Elke Holinski-Feder: Human Genetics. 7th edition. Thieme Verlag, Stuttgart 2006, ISBN 3-13-139297-5 , p. 297.