Facioscapulohumeral Muscular Dystrophy

What is FSH?

Facioscapulohumeral muscular dystrophy (FSH) is an inherited disorder of muscle. Symptoms include gradually increasing face, shoulder, abdomen, hip, upper arm, and lower leg weakness. The weakness may become more generalized as the disease progresses. This weakness is not equal on both sides of the body. The weakness is considered asymmetrical. The onset may be anytime from childhood to adulthood, but usually appears in the teen years. Other symptoms also include pain, inflammation, joint/spinal abnormalities and problems with cardiac and respiratory functions. High frequency hearing loss and abnormalities to the blood vessels behind the eye are present in over half of those with FSH. These symptoms alone are not enough to ascertain the presence of FSH, however, if the symptoms above are present, FSH is more likely.

What Causes FSH?

The lacking of a gene in the DNA strand or a mutation of that gene is what most likely causes FSH. The most common form of the disorder is inherited in an autosomal (a chromosome not related to sex) dominant trait. If one of your parents has FSH, you have a 50% chance of also having it. FSH is present in all ethnicities and both sexes. Approximately one out of 20,000 people inherit this disease. The good news is that it does not shorten one's life span.

How is FSH Diagnosed?

FSH can be diagnosed in multiple ways. EMGs, muscle biopsies, DNA tests, and NCVs can all be performed.  

How is FSH Treated?

Treatment is directed towards improving symptoms. Options for treatment include physical and occupational therapy, speech and hearing therapy, surgery, and anti-inflammatory drugs. A healthy diet is also helpful.

To Find a Specialist

To find a physician board-certified to conduct needle EMGs and nerve conduction studies click here: www.abemexam.org

For More Information

Muscular Dystrophy Association: www.mdausa.org

Fascioscapulohumeral Muscular Dystrophy Society: www.fshsociety.org

Muscular Dystrophy Campaign: www.muscular-dystrophy.org

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