Facioscapulohumeral muscular dystrophy

Causes

Facioscapulohumeral muscular dystrophy affects the upper body. It is not the same as Duchenne muscular dystrophy and Becker muscular dystrophy, which affect the lower body.

Facioscapulohumeral muscular dystrophy is a genetic disorder. It appears in both men and women and may develop in a child if either parent carries the gene for the disorder. In 10 to 30% of cases, the parents do not carry the genes.

Facioscapulohumeral muscular dystrophy affects about 5 out of 100,000 people. It affects men and women equally.

Symptoms

Men often have more symptoms than women.

Facioscapulohumeral muscular dystrophy mainly affects the face, shoulder, and upper arm muscles. However, it can also affect muscles around the pelvis, hips, and lower leg.

Symptoms can appear after birth, but often they do not appear until age 10 - 26. However, it is not uncommon for symptoms to appear much later in life. In some cases, symptoms never develop.

Symptoms are usually mild and very slowly become worse. Muscle weakness of the face is common, and may include:

• Eyelid drooping
• Inability to whistle
• Decreased facial expression
• Depressed or angry facial expression
• Difficulty pronouncing words

Shoulder muscle weakness causes deformities such as pronounced shoulder blades (scapular winging) and sloping shoulders. The person has difficulty raising the arms because of shoulder and arm muscle weakness.

Weakness of the lower legs is possible as the disorder gets worse. The weakness can be severe enough to interfere with walking. A small percentage of people become wheelchair-bound.

Hearing loss and abnormal heart rhythms may occur, but are rare.

Exams and Tests

A physical examination will show weakness of the face and shoulder muscles. High blood pressure may be noted but is usually mild. An eye exam may show changes in the blood vessels in the back of the eye.

Tests that may be done include:

• Creatine kinase test (may be slightly high)
• DNA testing
• Electrocardiogram (EKG)
• EMG (electromyography)
• Fluorescein angiography
• Genetic testing of chromosome 4
• Hearing tests
• Muscle biopsy (may confirm the diagnosis)

Treatment

There is no known cure for facioscapulohumeral muscular dystrophy. Treatments are given to control symptoms and improve quality of life. Activity is encouraged. Inactivity such as bedrest can make the muscle disease worse.

 Physical therapy may help maintain muscle strength. Other possible treatments include:

• Oral albuterol to increase muscle mass (but not strength)
• Speech therapy
• Surgery to fix a winged scapula
• Walking aids and foot support devices

Outlook (Prognosis)

Disability is often minor. Lifespan is usually not affected.

Possible Complications

• Decreased mobility
• Decreased ability to care for self
• Deformities of the face and shoulders
• Hearing loss
• Vision loss (rare)

When to Contact a Medical Professional

Call for an appointment with your health care provider if symptoms of this condition develop.

Genetic counseling is recommended for couples with a family history of this condition who wish to have children.

Alternative Names

Landouzy-Dejerine muscular dystrophy

References

Sarnat HB. Facioscapulohumeral muscular dystrophy. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 601.5.

Update Date: 2/1/2012

Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine; and Luc Jasmin, MD, PhD, Department of Neurosurgery at Cedars-Sinai Medical Center, Los Angeles, and Department of Anatomy at UCSF, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M. Health Solutions, Ebix, Inc.