Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disease characterized by progressive muscle weakness. The name of this particular type of muscular dystrophy identifies the muscles that are most affected by the disease, those being in the face (facio), back (scapula), and upper arm (humeral) regions. The hip girdle and lower legs also are commonly affected.

There are two types of FSHD caused by mutations in different genes, but the symptoms of both types are very similar.

Symptoms may take a very long time to develop. Most patients are not diagnosed with the disease until their 20s, and some may not notice indications until their 50s. Although rare, FSHD also may develop during infancy. The muscle atrophy associated with FSHD is characteristically asymmetric, which may cause initial FSHD symptoms to be confused with muscle strains or sports injuries.

Face, back, and upper arm symptoms

People with FSHD usually first recognize that they have a form of muscular dystrophy when they begin to have difficulties reaching overhead, smiling and making facial expressions, and climbing up and down stairs. However, a clinician may be able to identify less obvious early signs of FSHD. These may include protrusion of shoulder blades, known as scapular winging, difficulty throwing a ball, inability to whistle or blow up balloons, and trouble drinking from a straw. Over time, abdominal muscle atrophy can cause the inward curvature of the lower part of the spine.

Hip and lower leg weakness

As the disease progresses, the muscles that control for foot flexion and the muscles surrounding the pelvis begin to atrophy. Difficulty lifting or flexing the front of the foot typically lead to issues walking without tripping. Hip weakness also can make it difficult for those affected to rise from a chair and can alter gait. About 20 percent of FSHD patients eventually require a wheelchair for mobility.

Eye defects

In some FSHD patients, the blood vessels of the retina or the back of the eye can develop abnormalities. These abnormalities do not usually cause vision impairment, but it is recommended that patients are monitored by an ophthalmologist. The cause of retinal changes are not well understood, but it is more common among patients who develop FSHD as infants.

Additionally, due to the atrophy of facial muscles, patients may not be able to fully close their eyes when sleeping, causing the eyes to dry out. If not addressed, this can lead to further eye injury. Patients can prevent this by wearing eye patches when they sleep.

Pain and inflammation

A number of patients with FSHD display muscle inflammation, leading some researchers and clinicians to believe the disease is associated with an autoimmune reaction. This muscle inflammation can cause pain and discomfort for patients, and so may the movement of bony structures, as in scapular winging and spinal deformities. A few medicines have been identified to effectively manage pain and inflammation in FSHD patients.

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