Muscular Dystrophy

Muscular Dystrophy
Muscular Dystrophy

What is muscular dystrophy (MD)?

Muscular dystrophy is a group of diseases that involves a progressive loss of muscle mass and weakness of muscles leading to life-threatening conditions.

There are different types of MD:

  • Duchenne MD – seen in younger boys
  • Myotonic dystrophy – progressive muscle weakness or muscle wasting where smaller muscles are affected first. It affects both men and women with equal frequency.
  • Facioscapulohumeral MD – affects the face, shoulders, arms and calves
  • Becker MD – mostly affects boys, but less severe than Duchenne MD
  • Limb-girdle MD – affects the big muscles like shoulder and hip muscles
  • Oculopharyngeal MD – begins in the later years of life (50 years and above) and affects the muscles of eyes and throat
  • Emery-Dreifuss MD – begins in adolescence and involves muscle contractions in arms, neck and feet

What are its main signs and symptoms?

Early symptoms include:

  • Abnormal gait
  • Pain and stiffness in the muscles
  • Difficulty in running and jumping
  • Difficulty sitting up or standing
  • Walking on toes
  • Learning and speech disabilities
  • Frequent falls

Progressive symptoms include:

  • Limited movements
  • Breathing problems
  • Spinal curvature
  • Weakened heart muscles
  • Swallowing problems
  • Reduced life expectancy

What are the main causes?

MD is a genetic disorder that occurs due to mutations in genes that are responsible for the production of a muscle protein called dystrophin. A family history of muscular dystrophy increases the chances of an individual being affected.

How is it diagnosed and treated?


  • Investigation of symptoms like difficulty in standing, lifting objects or ability to play sports
  • Analysing the family history
  • Physical examination     
  • Blood test to assess creatine kinase that is released in the blood if muscles are damaged and to look for antibodies against muscle cells
  • Electrical test on muscle and nerves to observe muscle contractions and nerve impulses
  • Muscle biopsy that involves removing a sample of muscle tissue to examine for proteins under microscope
  • MRI and CT scan to view detailed images of the affected muscles and identify the extent of muscle damage
  • Chest X-ray, ECG and 2D echocardiogram to monitor breathing and heart symptoms
  • Genetic testing to check for mutations in the dystrophin gene


  • Currently, there is no cure for MD.
  • Medications like corticosteroids and heart medications might help in slowing the progression of MD and alleviate symptoms. Eteplirsen is a new drug identified to treat Duchenne MD.
  • General exercises can combat the inevitable inward movement of limbs.
  • Breathing assistance to improve oxygen delivery
  • Mobility aids that help the patient stay mobile
  • Braces help keep the muscles and tendons stretched and flexible.
  • Surgery is recommended to correct spinal curvature.


  1. National Health Service [Internet]. UK; Muscular dystrophy.
  2. MedlinePlus Medical Encyclopedia: US National Library of Medicine; Muscular Dystrophy.
  3. Center for Disease Control and Prevention [internet], Atlanta (GA): US Department of Health and Human Services; Muscular Dystrophy.
  4. National Institute of Neurological Disorders and Stroke [internet]. US Department of Health and Human Services; Muscular Dystrophy Information Page.
  5. Better health channel. Department of Health and Human Services [internet]. State government of Victoria; Muscular dystrophy.

Medicines for Muscular Dystrophy

Medicines listed below are available for Muscular Dystrophy. Please note that you should not take any medicines without doctor consultation. Taking any medicine without doctor's consultation can cause serious problems.