Muscular Dystrophy

The human body has more than 600 muscles. Many of these are skeletal muscles—you can move them voluntarily and control what they do. Together, the skeletal muscles and the bones give your body the power and strength to move.

Muscular dystrophy is a group of more than 30 diseases that involve breakdown of the skeletal muscles. When a child has muscular dystrophy, his muscle tissue weakens and wastes away.

Certain types of muscular dystrophy are present at birth, while others don’t start causing symptoms until middle age or later. Regardless of the age of onset, muscular dystrophy is always progressive—it continues to get worse over time.  

Types And Symptoms

There are nine main types of muscular dystrophy:


  • Most common form—about half of people with muscular dystrophy have Duchenne
  • Usually found in males
  • Involves general muscle weakness that quickly worsens
  • Affects pelvis, upper legs, and upper arms, but eventually involves every skeletal muscle
  • Age of onset is 2 to 6 years



  • Symptoms are similar to those of Duchenne but are less severe and have a slower rate of progression
  • Usually found in males
  • Age of onset is adolescence to early adulthood



  • General muscle weakness
  • Joints may be deformed
  • Progresses slowly
  • Present at birth



  • Weakness and wasting of the muscles in the lower legs, forearms, and hands
  • Progresses slowly
  • Age of onset is 40 to 60 years



  • Weakness and wasting of the muscles in the upper arms, shoulders, and calf muscles of the legs
  • May involve contractures (stiff joints) in the heels, neck, or elbows
  • Can affect cardiac muscle (heart muscle), leading problems with heart rhythm
  • Progresses slowly
  • Age of onset is childhood to early teens



  • Facial muscle weakness
  • Weakness and wasting of the muscles in the upper arms and shoulders
  • Progresses slowly, but there may be periods of time where it worsens quickly



  • Weakness and wasting of the shoulder girdle (bony structure surrounding the shoulder) and pelvic girdle (bony structure surrounding the pelvis)
  • May cause heart or breathing problems in the later stages of the disease
  • Progresses slowly
  • Age of onset is late childhood to middle age



  • Weakness of all muscle groups
  • Muscles have trouble relaxing after contracting (e.g., not being able to let go after shaking someone’s hand)
  • Affects the face, neck, hands, and feet first
  • Progresses slowly—sometimes over 50 to 60 years
  • Age of onset is 20 to 40 years



  • Affects muscles in the eyelids and throat
  • Weakened throat muscles make it difficult to swallow. This may lead to someone not getting food, and having emaciation—extreme weight loss or thinness
  • Progresses slowly
  • Age of onset is 40 to 70 years


Muscular dystrophy is genetic—it’s caused by imperfections in a person’s genes. Since genes are passed down from the parents to the child, it’s normal to see muscular dystrophy run in families. However, it’s still possible to get it without any family history of the disease.


The first step toward a diagnosis is an exam with a physician. The physician will ask about the child’s medical history, family history of muscular dystrophy, and symptoms (e.g., what they are, when they started).

Usually, diagnosis doesn’t stop there. Muscle weakness can be caused by other problems, like medication or exposure to toxic substances. A physician may want to run tests to rule those problems out, and to determine the exact type of muscular dystrophy.

Some of the common tests include:

  • Blood tests: These tests look for signs of damaged muscles in the bloodstream.
  • Imaging tests: Tests like magnetic resonance imaging (MRI) and ultrasounds give the physician detailed pictures of the damaged muscles.
  • Heart tests (e.g., electrocardiogram, or ECG): Heart tests measure how quickly and how often the heart beats. This is important to monitor, since some forms of muscular dystrophy can cause heart problems, like an irregular heartbeat.
  • Neurological tests: These are used to rule out disorders of the nervous system, as well as to test reflexes and coordination. They can also help a physician identify patterns in how a muscle is weakening or wasting.
  • Genetic tests: When a child has Duchenne or Becker muscular dystrophy, he is lacking a gene called dystrophin. Genetic tests look for missing or repeated changes in the dystrophin gene to confirm whether or not the child has muscular dystrophy. They can also determine if a woman with a family history of Duchenne or Becker may be a carrier—meaning she could pass it on if she gets pregnant.
  • Muscle biopsies: During a muscle biopsy, a little bit of muscle tissue is removed. The sample is examined for information about the genes causing the muscular dystrophy.
  • Exercise tests: Muscular dystrophy takes a toll on the body, so exercise assessments test a child’s strength and breathing.


Muscular dystrophy cannot be cured, but it’s often possible to treat the symptoms or slow down the rate of the disease’s progression.

Depending on the type and severity of his muscular dystrophy, a child may be treated with:

  • Physical therapy
  • Respiratory therapy
  • Speech therapy
  • Orthopaedic devices (e.g., splints, braces)
  • Medications to slow or control symptoms
  • Corrective orthopaedic surgery


Since muscular dystrophy is a genetic disorder, it cannot be prevented.


The OIC Muscular Dystrophy Team

At OIC we draw from a wide range of experts and expertise in order to help your child with his or her condition.

Neuromuscular diseases such as muscular dystrophy are managed by a team of specialists at OIC, including:
Orthopaedic Surgeon who specializes in the musculoskeletal system of children. They provide surgical interventions when necessary such as tendon lengthening.

A Pediatrician who reviews medical issues and coordinates the general healthcare of the patient, in addition to working with the orthopaedic surgeon for pre-operative assessments if surgery is indicated and overseeing medical issues for hospitalized patients.

The Nurse Coordinator assists in making sure all medical orders are carried out, and provides case management and nursing assessment for the patient.

The Orthotist works with the team to prevent unequal or unbalanced muscle groups which can lead to deformities as the child grows.

Physical Therapists help ensure who will help design, implement and monitor a physical therapy program to help reduce pain, or improve or restore mobility.

The team will help define goals for treatment including treatment outlines and plans, prepare for braces or surgical procedures and executing the treatment plan to achieve the desired outcomes.