Muscular Dystrophy

What is Muscular Dystrophy?

Muscular dystrophy is a rare, genetic neuromuscular condition that causes muscle weakness and wasting in the shoulders, hips, and pelvis. It can cause a range of motion and mobility difficulties, cardiac and respiratory problems, and scoliosis.

This disease is genetically inherited and is a progressive muscle disease with a gradual onset that worsens over time.

Symptoms

The disease affects various body parts differently and symptoms generally appear during childhood. Muscle weakness is the primary symptom of muscular dystrophy.

Other symptoms may include:

  • Muscle wasting 
  • Impaired muscle coordination
  • Deformities of the chest wall
  • Enlarged calf muscles.
  • Difficulty walking or running
  • Unusual gait (like walking)
  • Trouble swallowing.
  • Heart problems
  • Learning disabilities
  • Stiff or loose joints
  • Muscle pain
  • Curved spine
  • Breathing problems

Diagnosis

Muscular Dystrophy is diagnosed following a physical exam performed by our neurology team who will conduct genetic testing to look for specific gene mutations. 

Diagnostic testing may include:

  • Blood Tests – Used to measure muscle enzyme levels and protein, blood tests to check for elevated levels of an enzyme called creatine kinase.
  • Electromyography – I technique that measures the electrical activity of muscles and nerves.
  • Muscle biopsy – A test that measures cellular changes in muscle tissue
  • Genetic Tests – Used to identify gene mutations linked to muscular dystrophy

Treatment

Patients require a multidisciplinary approach to management, including cardiology, respiratory services, orthopedics and physical therapy.

Treatment aims to help patients maintain mobility, ambulation, breathing and cardiac function. It includes physical therapy, respiratory support services, orthotics or braces to manage deformities, medication, cell transplantation, and genetic therapy.

 


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