Facioscapulohumeral muscular dystrophy

Definition

Facioscapulohumeral muscular dystrophy is a muscle weakness and loss of muscle tissue that gets worse over time.

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 due to a chromosome mutation. It appears in both men and women. It 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 gene.

Facioscapulohumeral muscular dystrophy is one of the most common forms of muscle dystrophy affecting 1 in 15,000 to 1 in 20,000 adults in the United States. 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 (infantile form), but often they do not appear until age 10 to 26. However, it is not uncommon for symptoms to appear much later in life. In some cases, symptoms never develop.

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

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. This interferes with ability to play sports because of decreased strength and poor balance. The weakness can be severe enough to interfere with walking. A small percentage of people use a wheelchair.

Chronic pain is present in 50% to 80% of people with this type of muscular dystrophy.

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

Exams and Tests

A physical exam will show weakness of the face and shoulder muscles as well as scapular winging. Weakness of the back muscles can cause scoliosis, while weakness of the abdominal muscles can be the cause of a sagging belly. 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:

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:

Outlook (Prognosis)

Disability is often minor. Lifespan is most often not affected.

Possible Complications

Complications may include:

When to Contact a Medical Professional

Call your 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.


Review Date: 11/22/2017
Reviewed By: Luc Jasmin, MD, PhD, FRCS (C), FACS, Department of Surgery at Providence Medical Center, Medford OR; Department of Surgery at Ashland Community Hospital, Ashland OR; Department of Maxillofacial Surgery at UCSF, San Francisco, CA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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