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Superficial anterior muscles
Superficial anterior muscles

Facioscapulohumeral muscular dystrophy (Landouzy-Dejerine)
Definition:
Facioscapulohumeral muscular dystrophy is a disorder characterized by progressive muscle weakness and loss of muscle tissue, primarily affecting the face, shoulder, and upper arm muscles.

Alternative Names:
Facioscapulohumeral

Causes, incidence, and risk factors:
Facioscapulohumeral muscular dystrophy is a type of muscular dystrophy that affects the upper body, unlike some other types that affect primarily the lower body (including Duchenne muscular dystrophy and Becker muscular dystrophy). It is a genetic disorder with a autosomal dominant inheritance pattern (the disorder appears in men and women and may develop if either parent carries the gene for the disorder).

This disorder is extremely variable in the extent and severity of the symptoms, and in the age when symptoms appear. Symptoms often do not appear until ages 10 to 26, but it is not uncommon for symptoms to appear much later. In some cases, symptoms never develop.

Symptoms are usually mild and very slowly progressive. Facial muscle weakness is common. Shoulder muscle weakness causes deformities such as scapular winging and sloping shoulders. There is difficulty raising the arms because of shoulder and arm muscle weakness. Weakness of the lower legs is possible as the disorder progresses and can be severe enough to interfere with walking. Other body systems are usually not affected, and intellectual function is normal.

Facioscapulohumeral muscular dystrophy affects approximately 5 out of 100,000 people. It affects men and women equally.
Symptoms:
  • Facial muscle weakness
    • Eyelid drooping
    • Inability to whistle
    • Decreased facial expression
    • Depressed or angry facial expression
    • Difficulty pronouncing spoken words
  • Shoulder weakness
    • Difficulty working with the arms raised
    • Sloping shoulders
    • Pronounced shoulder blades (scapular winging)
  • Rarely hearing loss
  • Rarely abnormal heart rhythm
Signs and tests:
An examination indicates weakness of the facial and shoulder muscles. Involvement of other body symptoms (such as the lungs and heart) is rare. High blood pressure (hypertension) may occur but is usually mild.
  • A serum creatine kinase may be slightly elevated.
  • An EMG (electromyography) may be nonspecific or may have mixed features of muscle and nerve involvement.
  • A muscle biopsy may be nonspecific, or may confirm the diagnosis.
  • A hearing test may indicate hearing loss
  • An electrocardiogram (EKG) may indicate abnormal heart rhythm
Treatment:
There is no known cure for facioscapulohumeral muscular dystrophy. Treatment is aimed at control of the symptoms to maximize the quality of life. Activity is encouraged. Inactivity (such as bedrest) can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength.

Genetic counseling may be advised before having children.
Expectations (prognosis):
Progressive disability occurs very slowly with facioscapulohumeral muscular dystrophy. The patient's disability is often minor and life span is usually not affected.
Complications:
  • Permanent, progressive disability
    • Decreased mobility
    • Decreased ability to care for self
  • Deformities
  • Hearing loss
Calling your health care provider:
Call for an appointment with your health care provider if symptoms indicate facioscapulohumeral muscular dystrophy may be present.

Call for an appointment with your health care provider if you are planning a family and facioscapulohumeral muscular dystrophy has been diagnosed in yourself, your spouse, or family members.
Prevention:
Genetic counseling may be advised if there is a family history of facioscapulohumeral muscular dystrophy.
Review Date: 8/8/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
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