Muscular dystrophy

Specialty of Pathology

What is muscular dystrophy?

Muscular dystrophies (MD) are a group of muscle diseases that results in increasing weakening and breakdown of the neuromuscular system, leading to an increasing level of disability. Some common types of MD include:

  • Becker MD
  • limb-girdle MD
  • Duchenne MD
  • Emery-Dreifuss MD
  • myotonic dystrophy
  • distal MD
  • facioscapulohumeral muscular dystrophy (FSHD)

What are the symptoms of muscular dystrophy?

Early symptoms of MD include:

  • Trouble doing simple, daily things, such as climbing the stairs
  • Fatigue from simple actions and movements
  • Waddling gait, with an anterior tilt of the pelvis
  • Scoliosis and lordosis (where the spine curves too far inwards), which consequently cause trouble breathing

When the condition has reached a more advanced stage, the heart and respiratory system may be affected as well. While different MDs have different signs, all muscular dystrophies in general cause symmetrical muscle weakness.

How is muscular dystrophy diagnosed?

After identifying which symptoms can be traced back to muscular dystrophy, you will have to do a blood test to look at your creatine phosphokinase levels. An anomaly in this intracellular enzyme levels may point to a condition of the muscle fibre structure, which can be an early sign of dystrophy. A biopsy (collecting muscle tissue) is essential to analyse dystrophin levels: people affected by MDs are gradually unable to synthesize this protein.

What causes muscular dystrophy?

Muscular dystrophies are caused by a genetic mutation in the genes responsible for the structure and functioning of a person's muscles. Due to this genetic anomaly, the muscle fibres do not develop properly; this, in turn, leads to mobility impairment.

How can it be prevented?

As of yet, it’s not possible to prevent MDs, as they are thought to be inherited conditions.

How are muscular dystrophies treated?

While there is no permanent cure for muscular dystrophies yet, there are several treatment options to reduce the symptoms and to improve quality of life of people affected from these conditions. In the early stages of MDs, steroid therapy can help with the fatigue, while also allowing the patient to be more active and keep any respiratory system disorders under control.

If the patient is suffering from early cardiac disorders, their doctor may prescribe them ACE inhibitors (angiotensin converting enzyme) to reduce symptoms. However, due to potential complications, the doctor should fully discuss the risks and other options with the patient first. In case of impaired respiratory function, the patient may have to turn to non-invasive mechanical ventilation; in more complex cases, they may have to undergo a tracheotomy.

Which doctor should I talk to?

You should see a neurologist, who will have you do all the necessary tests and exams to formulate an accurate diagnosis and choose the best possible treatment.

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