Facioscapulohumeral Muscular Dystrophy (FSHD): Causes, Symptoms, and Treatments

Medically reviewed by Dr. Baraa Alnahhal, MD · Last reviewed: October 2026

Source currency note: This guide reflects medical information reviewed in December 2023. Always confirm current guidance with your neurologist or neuromuscular specialist.

Quick Answer: What is facioscapulohumeral muscular dystrophy?

Facioscapulohumeral muscular dystrophy is a rare inherited muscle-wasting disease in which weakness usually starts in the face, shoulder blades and upper arms but can spread to any muscle. It is caused by reactivation of the DUX4 gene, and genetic testing confirms it. There is no cure, but therapy and supports help, and most people have a normal lifespan. [4]

What the research says

• Exercise helps endurance more than strength. A meta-analysis of 13 randomized trials in 617 people with muscular dystrophy found that, in people with FSHD or myotonic dystrophy, exercise did not significantly change muscle strength but was associated with a modest gain in walking endurance of about 17 meters (Gianola et al., Frontiers in Neurology, 2020 [1]).

• Early-onset FSHD tends to be more severe. Pooling individual data on 227 people with early-onset FSHD (about 10% of all FSHD) from 43 articles, 40% were wheelchair-dependent at an average age of 18.8 years, 40% had hearing loss, and 37% had retinal abnormalities (Goselink et al., Neuromuscular Disorders, 2017 [2]).

• Long-term survival data are still limited. A systematic review of eight studies covering 1,091 people found that deaths were reported in 27.8% of people with early-onset FSHD (mean age at death 18.4 years) and 7.9% of people across all phenotypes (mean age 62.6 years), often from respiratory or cardiac causes, and the authors call for better long-term studies (Li et al., Journal of the Neurological Sciences, 2026 [3]).

Understanding facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy, usually called FSHD, is a common form of muscular dystrophy. It is named for the muscle groups where symptoms typically first appear: the face, the shoulder blades, and the upper arms. Weakness often progresses slowly, but over time it can affect any muscle in the body. Symptoms can start as early as infancy, but they typically develop between adolescence and age 20 to 30. FSHD is rare, and researchers believe it affects between 4 and 10 in 100,000 people. Most people with FSHD can expect a normal lifespan [4].

Classification of FSHD

There are two types of FSHD. They cause the same symptoms but happen for different reasons [4]:

Type	Share of cases	Genetic mechanism
FSHD1	About 95%	The DUX4 gene, normally inactive in most cells, becomes active and produces proteins that destroy muscle cells
FSHD2	The remaining cases	A mutation in the SMCHD1 gene stops it from keeping DUX4 inactive, so DUX4 is reactivated

Identifying the symptoms

FSHD symptoms are often asymmetric, so one side of the body may be much weaker than the other. The earliest signs usually involve the face and shoulders [4].

Body area	Symptom	Functional impact
Face (facio)	Weakness in the muscles around the mouth and eyes	Trouble pursing the lips to whistle or sip through a straw; sleeping with the eyes slightly open
Shoulder (scapulo)	Weakness in the muscles that hold the shoulder blades in place	Scapular winging, where the shoulder blades stick out like wings
Upper arm (humeral)	Weakness in the biceps and triceps	Difficulty lifting the arms higher than the shoulders

Other common symptoms include weak lower abdominal muscles that make the belly stick out, a sunken breastbone, weak or drooping wrists, chronic fatigue, and pain that can be severe [4].

Possible complications

As FSHD progresses, it can affect mobility, vision, and hearing. About 20% of people with FSHD need a wheelchair after age 50 [4].

System	Complication	Description
Vision	Coats disease	Abnormal blood vessels in the retina
Vision	Exposure keratitis	A dry cornea because the eye cannot close all the way
Hearing	High-frequency hearing loss	Reduced ability to hear high-pitched sounds
Mobility	Trendelenburg gait and footdrop	Swaying toward the affected side when walking, and difficulty lifting the foot
Spine	Lordosis and scoliosis	An inward curve or a sideways curve of the spine

Causes and genetic inheritance

FSHD1 happens when DUX4, a gene that is normally inactive in most cells, becomes active. The reactivated gene produces proteins that damage muscle, and over time the affected muscles become weak and shrink (atrophy). FSHD2 happens when the SMCHD1 gene mutates; this gene normally helps keep DUX4 switched off, so when it stops working DUX4 is reactivated in the same way [4].

FSHD is inherited in an autosomal dominant pattern, so a person with FSHD has a 50% chance of passing the abnormal gene to each child. However, about 30% of people with FSHD1 have no family history. Researchers believe this may happen when a new mutation develops after conception, possibly through mosaicism, which means individual cells differ from each other in their genetic makeup. The most significant risk factor is a family history of the disease [4].

Diagnosis and clinical evaluation

Diagnosis starts with a physical exam and a review of your family history. Because FSHD can resemble other nerve and muscle disorders, providers may use several tests [4]:

• Genetic testing: the only test that confirms FSHD and shows which type you have.

• Blood tests: high levels of the enzymes serum creatine kinase and serum aldolase may signal muscle problems.

• Neurological tests: tests of reflexes and coordination, and electromyography, rule out other nervous system issues and look at muscle weakness patterns.

• Muscle biopsy: a small sample of muscle tissue is examined under a microscope.

Management and treatment

There is no cure for FSHD, but healthcare providers recommend ways to ease symptoms, keep mobility, and preserve independence. A team approach with physical and occupational therapists and specialists is typical [4].

Approach	Goal	Common interventions
Physical therapy	Mobility	Gentle exercise guided by your care team
Orthotic devices	Support	Corsets for weak abdominal muscles, back supports, shoulder braces, and shoe inserts to help walking and reduce falls
Occupational therapy	Independence	Learning ways to manage daily activities
Surgery	Range of motion	Scapular fixation to improve shoulder range of motion

Living with FSHD

FSHD is a life-changing condition, and self-care and community support matter. Connecting with other people who have FSHD can ease the isolation that often comes with a rare disease. An occupational therapist can help you adapt to limits on what you can do on your own. Gentle aerobic exercise helps with mobility and eases stress, but talk to your healthcare provider before starting an exercise program [4].

Conclusion

FSHD is a complex genetic condition that needs lifelong management. Although it is progressive, early diagnosis through genetic testing and a proactive approach to physical and occupational therapy can improve quality of life. With orthotic supports and a consistent, gentle exercise routine, many people with FSHD stay active and fulfilled [4].

If you or a family member notices unusual weakness in the face or shoulders, or you have a family history of muscular dystrophy, talk to a healthcare provider about a genetic evaluation. Also tell your provider about any new muscle weakness or weakness that is getting worse [4].

Frequently Asked Questions

What exactly is FSHD?

Facioscapulohumeral muscular dystrophy (FSHD) is a rare, inherited muscle-wasting disease. It mainly weakens the muscles of the face, shoulder blades, and upper arms, and it can eventually affect other muscles throughout the body.

Is FSHD a common condition?

No, FSHD is rare. It is estimated to affect between 4 and 10 people in every 100,000, although it is one of the more common forms of muscular dystrophy.

Can I have FSHD if no one in my family has it?

Yes. About 30% of people with FSHD1 have no family history. This is thought to happen when a new genetic mutation develops after conception.

How is FSHD diagnosed?

Diagnosis usually involves a physical exam, a review of symptoms and family history, and blood and neurological tests. Genetic testing is the only way to confirm FSHD and identify its type.

Does FSHD affect life expectancy?

Most people with FSHD can expect a normal lifespan. However, early-onset FSHD tends to be more severe, and a systematic review found that some people died prematurely, often from respiratory or cardiac causes, so ask your care team what to expect in your situation.

Will I eventually need a wheelchair?

Not everyone with FSHD will. About 20% of people with the condition need a wheelchair after age 50 as weakness progresses.

Are there treatments available for FSHD?

There is no cure, but treatments include physical therapy, occupational therapy, and orthotic devices such as braces and shoe inserts. In some cases, surgery can help stabilize the shoulder blades.

Can FSHD affect my vision or hearing?

Yes. FSHD can cause high-frequency hearing loss and eye problems such as Coats disease (abnormal blood vessels in the retina) or a dry cornea because the eyes cannot close completely.

Is exercise safe for people with FSHD?

Gentle aerobic exercise is generally recommended to help maintain mobility and reduce stress, but always talk to your healthcare provider before starting a new exercise program.

Can I pass FSHD to my children?

FSHD is inherited in an autosomal dominant pattern. If you carry the abnormal gene, there is a 50% chance of passing it to each of your children.

References

1. Gianola S, Castellini G, Pecoraro V, et al. Effect of muscular exercise on patients with muscular dystrophy: a systematic review and meta-analysis of the literature. Frontiers in Neurology. 2020;11:958. PMID 33281695. https://doi.org/10.3389/fneur.2020.00958

2. Goselink RJM, Voermans NC, Okkersen K, et al. Early onset facioscapulohumeral dystrophy: a systematic review using individual patient data. Neuromuscular Disorders. 2017;27(12):1077-1083. PMID 29102079. https://doi.org/10.1016/j.nmd.2017.09.007

3. Li KH, Thakker D, Ba S, et al. Mortality associated with facioscapulohumeral muscular dystrophy: a systematic literature review. Journal of the Neurological Sciences. 2026;487:125984. PMID 42134212. https://doi.org/10.1016/j.jns.2026.125984

4. Cleveland Clinic. FSHD (facioscapulohumeral muscular dystrophy). Cleveland Clinic. December 6, 2023. https://my.clevelandclinic.org/health/diseases/facioscapulohumeral-muscular-dystrophy-fshd

Medical disclaimer

This article was prepared for general information only and is not a substitute for professional medical advice.