FSH Muscular Dystrophy

What is FSH Muscular Dystrophy?

Facioscapulohumeral (FSH) muscular dystrophy is a form of muscular dystrophy that most commonly causes progressive weakness of the face, upper arms and shoulder regions, though symptoms can affect the legs as well.

The disease is caused by degeneration of muscle due to a missing chromosome in the person’s genes. This deletion can be inherited from one generation to the next.

FSH Muscular Dystrophy

  • The “FSH” in FSH muscular dystrophy stands for facioscapulohumeral. This long word is a description of the areas affected:
    • Facio means “of the face”
    • Scapulo means “of the shoulder blade”
    • Humeral means “of the upper arm”
  • These are three areas often affected by FSH muscular dystrophy. Over time, muscular weakness and atrophy can also affect the legs.
  • The condition affects about one in every 20,000 people. Approximately 20 percent of those with FSH muscular dystrophy eventually need a wheelchair.
  • FSH muscular dystrophy may affect one side of the body more than the other.

FSH Muscular Dystrophy Symptoms

Symptoms vary among individuals and may include signs of facial weakness such as difficulty closing the eyes, smiling or drinking with a straw

When the symptoms of FSH muscular dystrophy appear during childhood, the condition is more likely to progress to severe facial and limb weakness. In other cases, when the onset occurs in adolescence or adulthood, symptoms are more likely to develop slowly and gradually.

FSH Muscular Dystrophy Diagnosis

The diagnosis of FSH muscular dystrophy is based on clinical history, family history, physical examination and genetic studies.

Doctors can often confirm a diagnosis with a blood test that shows the chromosomal deletion causing FSH muscular dystrophy. A genetics counselor will carefully review the person’s history and clarify the principles of inheritance and how they affect the risk of FSH muscular dystrophy. This information can help individuals and families weigh risks and potential benefits of genetic testing and decide if it is appropriate for them.

If a person has signs and symptoms that are not typical for FSH muscular dystrophy, the neurologist may recommend other laboratory studies such as electrodiagnostic testing (EMG) or muscle biopsy to rule out other conditions before recommending genetic testing.

A muscle biopsy is often helpful to determine if the muscle weakness is caused by muscular dystrophy, an inherited disorder, or by other, acquired causes of muscle degeneration such as inflammation or toxic exposure.

FSH Muscular Dystrophy Treatment

Treatment of FSH muscular dystrophy is most effective when provided by a multidisciplinary team.

A neurologist oversees management of the condition and directs care. Specialists in rehabilitation medicine can meet with individuals to provide tailored exercise and stretching programs for the treatment of weakness and contractures.

The team will also assess whether or not the person may benefit from splints and orthotics to help with hand or foot function.

People with FSH muscular dystrophy may have hearing loss or a retinal vasculopathy, a condition that affects the blood vessels in your eye. The doctor will screen for these associated disorders and refer the person to additional specialists as needed.

More Information on FSH Muscular Dystrophy

Read about other types of neuromuscular disease in the Health Library

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