What is it?
Inherited muscle disorder causing muscle weakness of the legs and pelvis.
- It usually begins in the teens or early twenties
Cause
- Abnormalities (mutations) in the DMD gene that is responsible for the production of the dystrophin protein.
- Dystrophin is necessary for the stability and protection of muscle.
- The gene mutation causes the dystrophin protein to be shorter than normal and not function normally.
- The DMD gene is located on the X chromosome and Becker muscular dystrophy follows x-linked recessive inheritance.
- Females have two X chromosomes but one of the X chromosomes is “turned off” and all of the genes on that chromosome are inactivated.
- Females who have a disease gene present on one of their X chromosomes are carriers for that disorder.
- Carrier females usually do not display symptoms of the disorder because it is usually the X chromosome with the abnormal gene that is “turned off”.
- A male has one X chromosome and if he inherits an X chromosome that contains a disease gene, he will develop the disease.
- Males with X-linked disorders pass the disease gene to all of their daughters, who will be carriers.
- A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring.
- Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease, and a 25% chance to have an unaffected son.
National Organization of Rare Diseases
Symptoms
- Breathing difficulties and/or shortness of breath?
- Cramping during exercise and reduced stamina during exercise?
- Muscle gradually deteriorates in the hips, pelvis, thighs and shoulders that can lead to walking on toes with the stomach forward?
- One may have walking and/or stamina difficulties?
- Muscle weakness is frequently more severe on one side of the body (asymmetric)?
Complications /Information to beware of/General tips:
Medical Emergency Condition
And/or do not wait, phone for an ambulance if have or develop:
This condition can lead to:
- Muscle stiffness (myotonia)
- Cataracts
- Excessive sleeping or sleepiness
- Difficulty swallowing
- Behavioural and learning problems in children
This condition may show similar symptoms to:
Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice
Detailed Information
Please copy and paste any key words from the title: Becker Muscular Dystrophy in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).
- NHS
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- National Organisation of Rare Diseases
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