Becker Muscular Dystrophy
What is it?
Becker Muscular Dystrophy is a hereditary disorder affecting only boys that is characterised by progressive muscle weakening. This is another example of the single gene disease – in this case mutations occur in the dystrophin gene. The product of the dystrophin gene is the protein present in the muscle cells that works as glue that binds these cells together.
Symptoms
First symptoms usually appear in teenagers and include difficulty with walking and getting up from the floor. The disease progresses slowly and with variability but can affect all voluntary muscles. Sometimes heart and breathing problems might also occur.
Causes
Becker Muscular Dystrophy is caused by mutations in dystrophin gene. Produced dystrophin is slightly different in structure from the one that is produced in healthy humans, which adversely affects its function. There are various gene defects that give rise to the disease but many of them are mutations changing the splicing pattern of dystrophin gene.
How is it treated?
Becker Muscular Dystrophy is not curable. Physiotherapy can help to prolong the mobility. Sometimes steroids are used to slow the progression of the disease.
How is it diagnosed?
There are three types of tests available.
- CK test – it measures the amount of creatine kinase (CK) in the blood sample. Creatine kinase is an enzyme that is present in the muscle cells. In men with Becker Dystrophy it leaks out of the muscles cells to the bloodstream.
- Muscle biopsy – when a small sample of muscle is removed and examined
- DNA testing – checking for the faulty gene
To find out more see:
- Becker Muscular Dystrophy page of the MDA website
- Becker Muscular Dystrophy page of the Patient UK website
- Muscular Dystrophy Campaign
See also:
