Symptoms of Muscular Dystrophy

Muscular dystrophy (MD) is a group of so-called "X-linked" genetic disorders that cause progressive muscle weakness and degeneration of the skeletal muscles controlling movement. Some forms of MD become apparent in infancy or early childhood, while others don't appear until middle age or later, according to the National Institutes of Health (NIH). In total, there are nine types of MD.

Frequent Symptoms

Progressive muscle weakness is present in all forms of muscular dystrophy, but other signs and symptoms will emerge depending on the type of MD a person has. The muscle groups affected may also vary from one type of MD to the other, according to the Muscular Dystrophy Association in Australia. The frequent symptoms are as follows:

  • The affected muscle may noticeably decrease in size.
  • The muscles of the arms, legs, and trunk weaken, and movement becomes prohibitive.
  • Contractures (permanent shortening of a muscle over a joint) can occur with certain types of MD.
  • Scoliosis (curvature of the spine) may be present with some forms of MD.
  • The muscles involved in speech and swallowing may weaken, making communication and eating difficult.
  • Some people may develop changes in the brain that lead to learning disabilities.
  • Certain types of MD may affect the heart, eyes, gastrointestinal tract, or other organs in the body.

Rare Symptoms

Duchenne MD is the most common type of this disease and approximately one-third of boys with it don’t present with a familial history of muscular dystrophy. When the origins of Duchenne MD can’t be traced back to other members of the family, researchers believe an abrupt, spontaneous mutation of the corresponding gene may have occurred, according to the Mayo Clinic.

Some symptoms of Duchenne MD can coincide with other types and may require immediate medical attention. When vital organs, such as the heart and the lungs, are affected, life-threatening complications may occur. Additionally, serious infections can develop in people with MD and may require prompt treatment.   

Complications

As muscles further weaken, several complications can occur:

  • Mobility becomes challenging, and some people may need an assistive device, like a cane, walker, or wheelchair, to walk.
  • Contractures can be painful and pose another obstacle to mobility. Medications to alleviate pain and reduce stiffness can be of benefit to some people. But when contractures are severe, patients may require surgery to improve movement.  
  • As weakness in the muscles of the trunk, or midsection, progresses, breathing difficulties will likely develop. To assist with breathing, some people will need to use a ventilator.
  • When scoliosis develops in MD patients, seating and positioning devices can be used to improve postural alignment. But in some instances, people may require surgery to stabilize the spine.
  • Certain types of MD may cause the heart to work less efficiently, and some people require surgery to minimize the problems.
  • Some people will have difficulty eating and swallowing, which can lead to nutritional deficiencies or aspiration pneumonia. This is an infection of the lungs caused by inhaling food, stomach acids, or saliva. A feeding tube may be placed to supplement nutrition, decrease the risk of aspirating, and lessen the challenges associated with eating and swallowing.

    When to See a Doctor

    If you or your child exhibits signs of muscle weakness, such as falling, dropping things, or overall clumsiness, it’s time to see your doctor for an exam and appropriate testing and diagnostic procedures. If you have MD and you experience a new onset of symptoms, consult with your healthcare provider to ensure you receive the care you need.

    Sources:

    Mayo Clinic website. Muscular Dystrophy. https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/diagnosis-treatment/drc-20375394

    Muscular Dystrophy Association Australia website. Facts About Rare Muscular Dystrophies. http://mdaustralia.org.au/wp-content/uploads/2012/07/014_rare-mds-2012.pdf

    National Institute of Health website. Muscular Dystrophy Information Page. https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page