Becker's muscular dystrophy

Muscular dystrophy Becker- Kiener, also Becker muscular dystrophy, named after Peter Emil Becker first described, is a genetic disorder that belongs to the group of muscular dystrophies. The disease affects the basis of an X - chromosomal inheritance of only males and occurs with a frequency of approximately 1:20,000. Approximately one third of patients have a de novo mutation. As for the Duchenne muscular dystrophy is the gene on the X chromosome that encodes the protein dystrophin muscle structure, defective. This is in contrast to the Duchenne muscular dystrophy not a frameshift such that a decreased fully functional protein is produced. Due to the formation of this "residual protein " of the curve is benign in Duchenne muscular dystrophy. The age of onset is in the middle later, mostly in school age (range from 2 to 30 years ). Here, too, especially the pelvic girdle and shoulder girdle muscles later is concerned. Due to the transformation of skeletal muscle fat and connective tissue, the muscle usually does not appear atrophic despite weakness. The course is highly variable, the majority of those affected can lead a relatively normal life. Life expectancy is reduced in more disadvantaged on the course about 40 years, but can also be approximately normal. Complications occur under circumstances by a cardiomyopathy.

The diagnosis is based on medical history and family history, clinical examination, elevated creatine kinase in serum, a myopathic pattern in electromyography and the detection of typical remodeling in a muscle biopsy. A genetic diagnosis is possible. Muscular dystrophy Becker- Kiener can not be cured; in the symptomatic treatment of physiotherapy plays an important role.

Swell

  • Thomas Klopstock and Dieter Pongratz -Erich: myopathies. In: Thomas Brandt, Johannes Dichgans, Hans Christoph Diener (ed.): Treatment and course of neurological diseases. 5th edition, carbon hammer, Stuttgart 2007, ISBN 978-3-17-019074-0.
  • January Murken, Tiemo Grimm, Elke Holinski - spring: Human Genetics, 7 Edition, Thieme Verlag, 7th, Stuttgart 2006, pp. 297, ISBN 978-3-13-139297-8
  • Hereditary disease
  • Muscle disease
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