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Muscular Dystrophy

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Muscular Dystrophy Also called: MD

Muscular dystrophy (MD) refers to a group of more than 30 inherited diseases that cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood, while others may not appear until middle age or later. The different muscular dystrophies vary in who they affect and the symptoms. All forms of MD grow worse as the person's muscles get weaker. Most people with MD eventually lose the ability to walk.

There is no cure for muscular dystrophy. Treatments include physical and speech therapy, orthopedic devices, surgery and medications. Some people with muscular dystrophy have mild cases that worsen slowly. Others cases are disabling and severe.


Signs and symptoms

Signs and symptoms vary according to the type of muscular dystrophy. In general, muscular dystrophy symptoms may include:

  • Muscle weakness
  • Apparent lack of coordination
  • Progressive crippling, resulting in fixations (contractures) of the muscles around your joints and loss of mobility

Many specific signs and symptoms vary from among the different forms of MD. Each type is different in the age of onset, which parts of the body the symptoms primarily affect and how rapidly the disease progresses.

These types of muscular dystrophies are due to a genetic defect of the protein dystrophin.

Duchenne's muscular dystrophy is the most severe form of dystrophinopathy. It occurs mostly in young boys and is the most common form of MD that affects children. Signs and symptoms of Duchenne's MD may include:

  • Frequent falls
  • Large calf muscles
  • Difficulty getting up from a lying or sitting position
  • Weakness in lower leg muscles, resulting in difficulty running and jumping
  • Waddling gait
  • Mild mental retardation, in some cases

Signs and symptoms of Duchenne's usually appear between the ages of 2 and 6. It first affects the muscles of the pelvis, upper arms and upper legs. By late childhood, most children with this form of muscular dystrophy are unable to walk. Most die by their late teens or early 20s, often from pneumonia, respiratory muscle weakness or cardiac complications. Some people with Duchenne's MD may exhibit curvature of their spine (scoliosis).

Becker's muscular dystrophy is a milder form of dystrophinopathy. It generally affects older boys and young men, and progresses more slowly, usually over several decades. Signs and symptoms of Becker's MD are similar to those of Duchenne's. The onset of the signs and symptoms is generally around age 11, but may not occur until the mid-20s or even later. Those affected by Becker's MD usually are able to walk through their teens, and often well into adulthood.

Myotonic dystrophy

Also known as Steinert's disease, this form of muscular dystrophy produces stiffness of muscles and an inability to relax muscles at will (myotonia), as well as the muscle weakness of the other forms of muscular dystrophy.

Although this form of MD can affect children, it often doesn't affect people until adulthood. It can vary greatly in its severity. Muscles may feel stiff after using them. Progression of this form of MD is slow. Besides myotonia, signs and symptoms of adult-onset myotonic dystrophy may include:

  • Weakening of voluntary muscles that control your arms and legs, usually beginning with the limb muscles farthest from the torso — the muscles of the feet, hands, lower legs and forearms.
  • Weakening of head, neck and face muscles, which may result in the face having a hollow, drooped appearance.
  • Weakening of muscles involved in breathing and swallowing. Weaker breathing muscles may result in less oxygen intake and fatigue. Weaker swallowing muscles increase the risk of choking.
  • Fainting or dizziness, which may indicate that the disease is interfering with the conduction of electrical signals that keep the heart rate normal.
  • Weakening of muscles of hollow internal organs such as those in the digestive tract and the uterus. Depending on which part of the digestive tract is affected, you may experience problems with swallowing as well as constipation and diarrhea. Weakness of the uterine walls may cause problems during childbirth.
  • Difficulty sleeping well at night and daytime sleepiness, and inability to concentrate because of the effect of the disease on the brain.
  • Frontal balding in men.
  • Clouding of the lenses of the eyes (cataracts).
  • Mild diabetes.

Rarely, infants have this form of muscular dystrophy, in which case it's called congenital myotonic dystrophy. The infant form is more severe, although infants with myotonic dystrophy don't experience myotonia. Signs in infants may include:

  • Severe muscle weakness
  • Difficulty sucking and swallowing
  • Difficulty breathing
  • Cognitive impairment

 Facioscapulohumeral muscular dystrophy

Also known as Landouzy-Dejerine dystrophy, this form involves progressive muscle weakness, usually in this order:

  • Face
  • Shoulders
  • Abdomen
  • Feet
  • Upper arms
  • Pelvic area
  • Lower arms

When someone with facioscapulohumeral MD raises his or her arms, the shoulder blades may stick out like wings. Progression of this form is slow, with some spurts of rapidly increasing weakness. Onset usually occurs during the teen to early adult years.

 Other major types of muscular dystrophy

The other major types of muscular dystrophy include:

  • Limb-girdle muscular dystrophy
  • Congenital muscular dystrophy
  • Oculopharyngeal muscular dystrophy
  • Distal muscular dystrophy
  • Emery-Dreifuss muscular dystrophy

 Limb-girdle muscular dystrophy

Muscles usually affected first by this form of muscular dystrophy include:

  • Hips
  • Shoulders

This form then progresses to the arms and legs, though progression is slow. Limb-girdle MD may begin from early childhood to adulthood.

 Congenital muscular dystrophy

Signs of congenital MD may include:

  • General muscle weakness
  • Joint deformities

This form is apparent at birth and progresses slowly. More severe forms of congenital MDs may involve severe mental and speech problems as well as seizures.

 Oculopharyngeal muscular dystrophy

The first sign of this type of muscular dystrophy is usually drooping of the eyelids, followed by weakness of the muscles of the eye, face and throat, resulting in difficulty swallowing. Progression is slow. Signs and symptoms first appear in adulthood, usually in a person's 40s or 50s.

Distal muscular dystrophy
This group involves the muscles farthest away from the center of the body — those of the hands, forearms, feet and lower legs. The severity is generally less than for other forms of MD, and this form tends to progress slowly. Distal MD generally begins in adulthood between the ages of 40 and 60.

 Emery-Dreifuss muscular dystrophy

This form of muscular dystrophy usually begins in the muscles of the:

  • Shoulders
  • Upper arms
  • Shins

Cardiac arrhythmias, stiffness of the spine and muscle contractures are other features of Emery-Dreifuss MD. Emery-Dreifuss MD usually begins in the childhood to early teen years and progresses slowly.


Screening and diagnosis

A careful review of your family's history of muscle disease can help your doctor reach a diagnosis. In addition to a medical history review and physical examination, your doctor may rely on the following in diagnosing muscular dystrophy:

  • Blood tests. Damaged muscles release enzymes such as creatine kinase (CK) into your blood. High blood levels of CK suggest a muscle disease such as muscular dystrophy.
  • Electromyography. A thin-needle electrode is inserted through your skin into the muscle to be tested. Electrical activity is measured as you relax and as you gently tighten the muscle. Changes in the pattern of electrical activity can confirm a muscle disease. The distribution of the disease can be determined by testing different muscles.
  • Ultrasonography. High-frequency sound waves are used to produce precise images of tissues and structures within your body. An ultrasound is a noninvasive way of detecting certain muscle abnormalities, even in the early stages of the disease.
  • Muscle biopsy. A small piece of muscle is taken for laboratory analysis. The analysis distinguishes muscular dystrophies from other muscle diseases. Special tests can identify dystrophin and other markers associated with specific forms of muscular dystrophy.
  • Genetic testing. Blood samples are examined for mutations in some of the genes that cause different types of muscular dystrophy. For Duchenne's and Becker's muscular dystrophies, standard tests examine just the portions of the dystrophin gene responsible for most cases of these types of MD. These tests identify deletions or duplications on the dystrophin gene in about two-thirds of people with Duchenne's and Becker's MDs. The genetic defects responsible for Duchenne's and Becker's muscular dystrophies are harder to identify in other cases of those affected, but new tests that examine the entire dystrophin gene are making it possible to pinpoint tiny, less common mutations.


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