Symptoms:

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

Symptoms often do not appear until age 10 - 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 become worse. Facial muscle weakness 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.

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

Signs and tests:

A physical examination reveals weakness of the facial 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)
• Electrocardiogram (EKG)
• EMG (electromyography)
• Genetic testing of chromosome 4
• Hearing test
• Muscle biopsy (may confirm the diagnosis)