Becker Muscular Dystrophy - Medtick

Becker Muscular Dystrophy

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

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