Facioscapulohumeral muscular dystrophy (FSHD) is an inherited disease that often affects muscles in your face and upper body but can spread to any muscle in your body. Symptoms typically develop between adolescence and age 20 to 30. There’s no cure for FSHD, but there are therapies to ease your symptoms and help you keep up your quality of life.
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Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy (MD). FSHD symptoms typically start in the muscles in your face and upper body but can spread to any muscle in your body. FSHD is an inherited disorder, with symptoms that can start in infancy but typically develop between adolescence and age 20 to 30. There’s no cure, but there are therapies to ease your symptoms and help you keep your quality of life.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy
The two types of FSHD cause the same symptoms, but happen for different reasons:
Researchers believe it affects between 4 and 10 in 100,000 people.
FSHD (facioscapulohumeral muscular dystrophy) gets its name from Latin and medical terms for the muscles in parts of your body where symptoms typically first appear:
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FSHD may affect different muscles at different times. For example, your right arm may be weak, but not your left. Or both arms may be weak, but one will be much weaker than the other. Other common symptoms include:
Side effects or complications may include conditions that affect your vision, hearing and your ability to get around. About 20% of people with FSHD need to use wheelchairs after age 50. Specific conditions include:
FSHD1 happens when DUX4, a gene in most cells in your body that’s normally inactive becomes active. The reactivated gene produces proteins that damage muscles. Over time, the affected muscles become weak and atrophy (shrink).
FSHD2 happens when the SMCHD1 gene mutates. This gene normally produces proteins that help keep DUX4 genes from being reactivated. When SMCHD1 changes, however, it stops working. As with FSHD1, the reactivated DUX4 genes produce proteins that damage muscle.
People can inherit the condition if either biological parent carries a single copy of an abnormal gene. (This is autosomal dominance). People with FSHD have a 50% chance of passing the abnormal gene on to their children. About 30% of people with FSHD1 don’t have a family history of the condition. Researchers believe that may happen because a new mutation develops after conception, possibly through mosaicism. Mosaicism is when individual cells differ from each other in their genetic makeup.
The most significant risk factor is having a family history of the disease.
A healthcare provider will do a physical examination. They’ll ask if you know of anyone in your family with similar symptoms or who has FSHD. Providers may do the following tests:
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There’s no cure for FSHD, but healthcare providers recommend ways to ease its symptoms:
Most people with facioscapulohumeral muscular dystrophy can expect to have normal lifespans.
Facioscapulohumeral muscular dystrophy is a life-changing disease that healthcare providers can’t cure. Here are some suggestions that may help you navigate life with FSHD:
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Talk to your healthcare provider if you notice new muscle weakness or weakness that’s getting worse.
You may want to ask the following questions:
If the diagnosis is facioscapulohumeral muscular dystrophy (FSHD), you may feel relieved to finally know why your muscles don’t work like they should, like why you can’t smile or raise your arms. Now that you know what’s wrong, you may wonder and worry about what’s next. If you have questions, your healthcare provider is your best resource for information on what you can expect.
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Last reviewed on 12/06/2023.
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