FacioScapuloHumeral Muscular Dystrophy (FSH MD)

June 20, 2016

FacioScapuloHumeral Muscular Dystrophy (FSH MD)

What is FSHD?

• FSHD is one of the most prevalent of the nine primary types of muscular dystrophy affecting adults and children.

• It affects approximately 1 in 8,333 people around the world, or over 870,000 worldwide. The actual frequency may be significantly higher due to undiagnosed cases. What are the symptoms?

• FSHD causes a progressive loss of all skeletal muscle. Weakness is usually noticeable starting with facial, scapular/back and upper arm muscles.

• Weakness in facial muscles is a hallmark of FSHD – early symptoms can include difficulty whistling or smiling and eyes not fully closing during sleep.

• Loss of muscular strength limits both personal and occupational activities. 95% of patients develop noticeable muscle weakness by the age of 20. Approximately 20% of patients become unable to walk.

• Respiratory insufficiency, which can be life-threatening, is also a symptom. Who is affected?

• FSHD occurs with equal frequency in both males and females and can affect children and adults of all ages and all racial groups.

• An affected parent has a 50% chance of passing the genetic defect to each child. The majority of cases of FSHD are caused by a genetic deletion on chromosome 4.

• The age of onset is variable, as is the eventual extent and degree of muscle loss.

• Every person has the DUX4 gene that leads to FSHD. Usually, the gene is “bottled up” so it can’t cause harm, but when the bottle “breaks”, FSHD results.

• 30% of new FSHD patients have no prior family history and are a result of a spontaneous genetic change. In this sense, every person has a risk of having a child with FSHD. What are the Treatments?

• Currently, there is no treatment to slow down or cure FSHD.

• Low-intensity aerobic exercise appears to be safe and potentially beneficial. This should be done under the supervision of a physical therapist.

• Genetic diagnostic and prenatal diagnostic tests are available for FSHD.

• Researchers hope to develop new drugs for FSHD over the next 3-5 years. There is hope! (Taken from:

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