Becker muscular dystrophy
Becker Muscular Dystrophy ( BMD ) is a genetic disease of the muscles of the human body. This is an X-linked gonosomal recessive inheritance , which is why they are mainly male (99.9%). Women are often carriers , ie. the mutated gene is contained in their DNA, but its recessiveness causes it not to show. Becker muscular dystrophy is generally a milder form of Duchenne Muscular Dystrophy (DMD). The incidence of BMD in the population is about 1: 18,000 .
Genetics[edit | edit source]
Muscular dystrophy is caused by the deletion of a certain part of a chromosome. The distribution of deletions is typical for the spectral repeat region (up to 46% ). Becker muscular dystrophy accounts for about 15% of locus mutations .
The fundamental genetic difference between the allelic phenotypes of DMD and BMD is that DMD is genetically lethal , while in BMD, male reproductive capacity is maintained at a high percentage. Therefore, the frequency of inherited mutations is very high and newly created mutations are minimal. Both forms of dystrophy differ in onset and course, not in severity.
A genetic test to detect this disease is expensive because the mutation occurs on one of the largest human genes.
Causes[edit | edit source]
At the molecular level, the causes are different. One of the most common causes of dystrophy is a low concentration or abnormal form of plectin protein in muscle tissue, which is caused by a mutation in the appropriate X chromosome gene . In the muscles, the desmino-plectin system does not bind properly .
Symptoms[edit | edit source]
Becker muscular dystrophy can be detected at the molecular level as early as the prenatal period.
In childhood or early puberty (around 11 years), symptoms begin to appear:
- general physical weakness (the disabled person is not physically fit, has below-average results in sports,…),
- muscle cramps.
During adolescence , the symptoms escalate. Appear:
- difficulty walking fast , walking up stairs, running,
- difficulties in lifting heavy loads,
- loss of muscle mass (shoulder, upper and lower limbs),
- weakening of mimic and masticatory muscles → problem with food intake,
- weakening of the sphincters → spontaneous leakage of urine or stool ( incontinence ),
- inability to walk from 40. – 50. year,
- respiratory problems, heart problems and other symptoms associated with smooth muscle weakness .
Treatment[edit | edit source]
The treatment of the cause is currently unknown.
The course of the disease can be slowed down in the following ways:
- regular rehabilitation (impact exercise does not make sense),
- muscle massages,
- stretching splints (stretching and exercising a muscle in sleep).
Links[edit | edit source]
https://www.wikiskripta.eu/index.php?curid=69228
Related Articles[edit | edit source]
- Duchenne muscular dystrophy
- Daltonism
- Hemophilia
External links[edit | edit source]
- KAČÍRKOVÁ, Jitka. Becker Muscular Dystrophy (BMD) [online]. [feeling. 2016-10-23]. < http://www.amd-mda.cz/nervosvalova-onemocneni/diagnozy-typy-nervosvalovych-onemocneni/beckerova-svalova-dystrofie-bmd >.
References[edit | edit source]
- NUSSBAUM, Robert L, Roderick R MCINNES and Huntington F WILLARD, et al. Clinical Genetics: Thompson & Thompson. 6th edition. Prague: Triton, 2004. 492 pp. ISBN 80-7254-475-6 .
- LÜLLMANN-RAUCH, Renate. Histology. 1st edition. Prague: Grada, 2012. 576 pp. ISBN 978-80-247-3729-4 .
References[edit | edit source]
- ↑ KAČÍRKOVÁ, Jitka. Becker Muscular Dystrophy (BMD) [online]. Association of Muscular Dystrophics in the Czech Republic, © 2016. [feeling. 2017-01-13]. < http://www.amd-mda.cz/nervosvalova-onemocneni/diagnozy-typy-nervosvalovych-onemocneni/beckerova-svalova-dystrofie-bmd >.
- ↑ NUSSBAUM, Robert L, Roderick R MCINNES and Huntington F WILLARD, et al. Clinical Genetics: Thompson & Thompson. 6th edition. Prague: Triton, 2004. 492 pp. ISBN 80-7254-475-6 .
- ↑ NUSSBAUM, Robert L, Roderick R MCINNES and Huntington F WILLARD, et al. Clinical Genetics: Thompson & Thompson. 6th edition. Prague: Triton, 2004. 492 pp. ISBN 80-7254-475-6 .