FSHD FAQs
Looking for information about FSHD? Here are answers to some of the most common questions about FSHD along with links to more support and guidance. Under each question, you will find links to relevant videos ("Watch"), podcast episodes ("Listen"), downloadable written materials ("Read") and navigation to more information online ("Discover".)
We hope this FAQ will help you increase your knowledge about symptoms, progression, and what you can do to live a better life with FSHD.
Early symptoms can include difficulty whistling or smiling and eyes not closing fully during sleep. Weakness in facial muscles is a characteristic of FSHD seen in many patients (but not all).
FSHD causes progressive loss of skeletal muscle. Weakness is usually noticeable starting with facial, scapular (shoulder blades), and upper arm muscles. But in some, the first sign noticed may be tripping, caused by weakness in lower leg muscles.
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The extent of muscle loss differs between people with FSHD, even among members of the same family. Some report few difficulties throughout life, while others need a cane, walker, or wheelchair as walking becomes too difficult or impossible.
As the disease progresses, the lower and upper leg muscles are often affected. About 20 percent of FSHD patients overall will become dependent on a wheelchair or scooter. FSHD can also affect the respiratory system, and those with moderate to severe FSHD should have their breathing tested periodically.
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- Watch: Resilience and FSHD
- Listen: Episode 54: Missy Dixon, mental health counselor at the University of Utah
- Read: About FSHD
- Discover: I still have joy in my life
Although the progression of FSHD can be different for everyone, it is usually slow, happening over decades. Most patients will notice that one arm (or shoulder, or leg) is weakened, while the other remains stronger. The reason for this asymmetry is unknown.
A doctor often diagnoses FSHD based on weakness in the face muscles and muscles around the shoulder blades, which results in “winging” of the scapula. As the disease progresses, the lower and upper leg muscles are often affected. About 20 percent of FSHD patients will become dependent on a wheelchair or scooter. Weakness in the abdominal muscles can cause a bulging abdomen and lumbar lordosis (“sway back”).
FSHD can also have the following symptoms: hearing loss, respiratory problems, abnormal blood vessels in the back of the eye, and abnormal heart rhythms that are usually harmless. For many people, life with FSHD is a series of “drops” and “plateaus,” where symptoms may remain the same for a stretch of time followed by a sudden progression.
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Most people with FSHD can expect to have a normal lifespan. However, it is difficult to predict how FSHD will affect your quality of life. For almost all patients, skeletal muscles will weaken and waste throughout their life. This can, and often does, cause limitations on personal and occupational activities. FSHD does not appear to affect brain function. The heart and internal (smooth) muscles are also generally spared.
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There is no treatment or cure for FSHD yet. There are, however, steps you can take to ease its effects, including meeting with knowledgeable clinicians, some forms of exercise, non-steroidal anti-inflammatory drugs (NSAIDs), and dietary changes.
We are more hopeful today than ever before that a treatment is within sight. We cannot guarantee when that treatment will arrive, but here’s one thing we guarantee: If you volunteer for research, you will without question help move us a step closer to that day.
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- Watch: Getting Trial Ready
- Listen: Episode 79: Hot off the Press with Leigh Reynolds
- Read: What is a Clinical Trial?
- Discover: Pain Management in FSHD
FSHD is genetic in origin, caused by a complex combination of changes in an individual’s DNA. It is inherited and is not contagious. FSHD Type 1 (also called FSHD1, FSHD1A, or FSHMD1A) is the more common form of FSHD, making up about 95 percent of cases. FSHD results from the abnormal expression of a gene called DUX4 in muscle. Normally, DUX4 is expressed only in early embryo formation and in the cells that develop into sperm. But when expressed in muscle, DUX4 causes muscles cells to die. Other genes may also be involved in the disease process.
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FSHD can appear to skip generations because some people with the FSHD genotype do not show symptoms. However, the genetic change does not skip generations.
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Physical therapy, including light exercise, helps preserve flexibility. Swimming is especially helpful by making many movements easier. One should stay as active as possible, with rest breaks as needed during exercise and activities. Moderate aerobic exercise combined with cognitive behavioral therapy has been shown in a clinical trial to reduce chronic fatigue in FSHD patients.
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Chronic fatigue is a problem faced by many people with FSHD. Pain and fatigue can be significant factors in limiting daily activities. Over 70 percent of people with FSHD experience debilitating pain and fatigue.
Loss of facial expression and mobility, as well as others’ lack of understanding, can be emotionally distressing and cause people to withdraw socially. Finding social support is life-changing for many, which is why the FSHD Society strongly encourages patients to join a local chapter or one of the many online groups where people can share their experiences and knowledge with one another.
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FSHD2 has the same symptoms and progression as FSHD1, but has a different genetic cause. In FSHD1, repeated sections of DNA on chromosome 4 called D4Z4 are deleted, allowing DUX4 to be expressed. In FSHD2, the number of D4Z4 repeats is in the normal range. However, there is a mutation in a different gene, such as SMCHD1, that causes DUX4 to be expressed. In both FSHD1 and FSHD2, expression of the DUX4 gene causes the disease.
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