Symptoms of Muscular Dystrophy

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Muscular dystrophy (MD) is often considered one disease that presents in a classic way. While progressive muscle weakness and difficulty controlling movement are present in all nine forms of the disease, there are nuances in the symptoms experienced and the extent of them that depend on what type someone has. Some forms of MD become apparent in infancy or early childhood, while others don't appear until middle age or later.

Frequent Symptoms

Progressive muscle weakness is common among all types of MD, but it's important to look at each uniquely to understand exactly how this impacts an individual. There is some variation in the degree of muscle weakness, what muscles are affected, and the progression of the disease.

Duchenne Muscular Dystrophy (DMD)

The first signs of DMD may include:

  • Weakness in the legs and pelvis 
  • The appearance of enlarged calf muscles 
  • Frequent falling
  • Difficulty getting up from a sitting or lying down; "walking" one's hands up the legs to get to a standing position (the Gower maneuver)
  • Problems climbing stairs
  • A waddle-like walk
  • Standing and walking with the chest and stomach stuck out
  • Difficulty lifting the head; a weak neck

Eventually, DMD affects all the muscles in the body, including the heart and breathing muscles. So, as a child grows older, symptoms may grow to include fatigue, heart problems due to an enlarged heart, weakness in the arms and hands, and loss of ability to walk by age 12.

Becker Muscular Dystrophy

Becker muscular dystrophy is very similar to DMD, except that the symptoms of Becker MD can appear later in youth—up until as late as 25. Although similar to DMD, symptoms of Becker MD progress slower than those of DMD.

Congenital Muscular Dystrophy

Not all congenital forms of MD (those present at birth) have been identified. One form, Fukuyama congenital muscular dystrophy, causes severe weakness of the facial muscles and limbs and may include joint contractures, mental and speech problems, as well as seizures.

Emery-Dreifuss Muscular Dystrophy

This form progresses slowly. However, unlike DMD, contractures—muscle shortening—may appear earlier in life. Overall muscle weakness is also less severe than that of DMD. Serious heart problems associated with Emery-Dreifuss MD may require a pacemaker.

Limb-Girdle Muscular Dystrophy

The disease causes muscle weakness that starts in the hips, moves to the shoulders, and extends outwards into the arms and legs. The disease progresses slowly but eventually leads to difficulty walking.

Facioscapulohumeral Muscular Dystrophy (FSH MD)

People with FSH MD have shoulders that slope forward, making it difficult to raise their arms over their head. Muscle weakness continues throughout the body as the disease progresses. FSH MD can range from very mild to severe. Despite the progressive muscle weakness, many people with FSH MD are still able to walk.

Myotonic Muscular Dystrophy

This form of muscular dystrophy starts with muscle weakness in the face and then moves on to the feet and hands. Myotonic MD also causes myotonia—the prolonged stiffening of muscles (like spasms), and it’s a symptom that only occurs in this form of the disease.

Myotonic MD affects the central nervous system, heart, digestive tract, eyes, and endocrine glands. It progresses slowly, with the amount of muscle weakness varying from mild to severe.

Oculopharyngeal Muscular Dystrophy

Drooping eyelids are typically the first sign of this form of dystrophy. The condition then progresses to facial muscle weakness and difficulty swallowing. Surgery can reduce swallowing problems and prevent choking as well as pneumonia.

Distal Muscular Dystrophy

The muscle diseases defined as distal muscular dystrophy have similar symptoms of weakness of the forearms, hands, lower legs, and feet. These diseases, including subforms Welander, Markesbury-Griggs, Nonaka, and Miyoshi, are less severe and involve fewer muscles than other types of muscular dystrophy.

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; in some cases, they may be life-threatening. To assist with breathing, some people will need to use a ventilator.
  • Scoliosis can develop 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 address related 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.
  • MD can lead to changes in the brain that lead to learning disabilities.
  • Certain types of MD may affect the eyes, gastrointestinal tract, or other organs in the body, causing related concerns.

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. While there may certainly be other, more likely explanations for what you're noticing, it is best to have a professional weigh in.

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.

View Article 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