Muscular Dystrophy: Causes, Symptoms and Treatment

by | Jun 7, 2019 |

Muscular dystrophy is a group of muscle diseases which is characterized by progressive muscle weakness and breakdown of muscle mass over time. In this condition, mutated or abnormal genes interfere with the production of protein i.e. dystrophin, which is helpful for the formation of healthy muscle. The most common type is Duchenne muscular dystrophy (a severe form and mainly affects males), followed by Becker muscular dystrophy (a less severe form and mainly affects the voluntary muscles).

Symptoms of Muscular dystrophy

Following symptoms persist with muscular dystrophy, which includes:

  • Weakness and wasting of muscles of forearms, hands, lower legs and shoulders
  • Muscle stiffness
  • Difficult to run and jump
  • Poor balance, which leads to frequent fall
  • Joint deformities
  • A sudden involuntary contraction of a muscle, which lead to muscle spasms
  • Inability to walk or able to walk on the toe
  • Waddling gait due to proximal muscles weakness in the pelvic girdle

Causes of Muscular dystrophy

It is a generally hereditary condition. Specific genes are responsible for making muscle protein, named as dystrophin that forms healthy muscle or protects muscle from damage. It occurs when these genes become defective or mutated, and stop making essential protein for the development of healthy muscle. Therefore, the lack of dystrophin in the muscle is considered as the leading cause of it.


As muscular dystrophy progress, it may lead to some serious complications, such as:

  • Respiratory problems: Sometimes, the patient may need a ventilator for breathing because of weak breathing muscle.
  • Curved spine: Weak muscles are unable to hold the spine straight. Therefore, spine shape changes to “S” or “C” curve (Scoliosis condition) and interferes with the breathing process.
  • Heart problems: Heart muscles become weak which may lead to sudden death.
  • Swallowing problems: Throat muscles become weak, which lead to difficulty in swallow, which leads to aspiration pneumonia and nutritional problems.
  • Trouble walking: Weak lower leg muscles make some patients immobile.


Initially, the doctor does a physical examination; ask about family history and any muscle related problem. Then the following techniques are recommended for the diagnosis:

  • Biopsy: Muscle piece is examined under the microscope to detect it.
  • Enzyme assay: Damaged muscle releases creatine kinase (CK) and if the level of CK increases in the body, it reflects the presence.
  • Genetic testing: This test evaluates the mutated gene that causes muscular dystrophy.
  • Heart monitoring: Echocardiograms and electrocardiography are used to detect the heart function and are mainly used for the diagnosis of myotonic muscular dystrophy.
  • Electromyography: A needle is inserted into the muscle to check the electrical activity of muscle and the changes in the pattern of electrical activity that show signs of muscle disease.

Prevention and Treatment of Muscular dystrophy

Currently, no cure is available, but treatment options like medications, physiotherapy, surgery, etc. prevent the symptoms and slow down the progression of the disease.

  • Medications: Eteplirsen is the first medicine approved by the Food and Drug Administration (FDA) in 2016 for the treatment of Duchenne muscular dystrophy, which provides muscle strength. Other drugs such as prednisone (corticosteroids) delay the progression. Some heart medications like β-blockers or angiotensin-converting enzyme (ACE) inhibitors also protect the heart from the damage of muscular dystrophy.
  • Therapy: Exercises like aerobic, walking and swimming also provide strength to the muscle and maintain the body movement. Braces and mobility aids also provide relief from muscle pain and delay the progression.
  • Healthy lifestyle: Dietary changes provide the extra nutrients to the body which slow the progression.
  • Surgery: It is helpful only to straight the spine curvature when curved spine starts creating a problem in breathing.

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