muscular dystrophy

Cards (6)

  • MD is a group of inherited genetic muscle condition. Which slowly weakness the muscles which can cause it to degenerate.
  • Most common MD are:
    -Duchenne
    Becker
    -Facioscapulohumeral
    -Oculopharyngeal
    -Myotonic dystrophy
    • limb girdle
    -Emery Dreifuss
    -Congenital
  • It usage develops due a mutation In the gene or inherited from one or both parents. As some MD dominant and only need one gene however some are recessive and need two genes which you need both parents to be carries( meaning they have one gene but they do not have the other gene for it to show meaning they are asymptomatic
  • Symptoms for Duchenne normally start at early childhood and could be:
    •Frequently falling
    •Difficulty rising from lying or sitting position
    •Trouble running and jumping
    •Waddling
    •Walking on toes
    •Large calf muscles
    •Muscle pain and stiffness
    •Delayed growth
  • There is no cure of anytime of muscular dystrophy however there are ways to help with the symptoms of MDN like corticosteroids which help muscle strength and delays MD. However one symptoms of using corticosteroids is that can cause patients to gain weight and weakness bones meaning a increased chance of fracture. As MD can also cause heart problems ACE (angiogenesis converting enzymes) inhibitor can also be prescribed along with beta blockers.
  • If you have a family history of MD and have similar symptoms the doctor might do:
    -Enzyme tests as damaged muscles release Enzymes like CK into the blood
    -Genetic testing as it can show which type of MD it is and also look for mutations
    -Muscle biopsy this is when you remove a small part of the patients Muscle and determine if it is MD or another disease
    -Heart monitoring Test as the hearts tissue become more fatty and fibrotic causing arrhythmia