Table of ContentsView AllTable of ContentsTypesSymptomsCausesDiagnosisTreatmentPrognosisCopingFrequently Asked Questions
Table of ContentsView All
View All
Table of Contents
Types
Symptoms
Causes
Diagnosis
Treatment
Prognosis
Coping
Frequently Asked Questions
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common type ofmuscular dystrophy. Although it also causes progressive muscle weakness, FSHD does not shorten your life expectancy as other forms of muscular dystrophy do.
Verywell / Michela Buttignol
The condition is named after the Latin names for main areas wheremuscle weaknessoccurs:Faciesfor the faceScapulafor theshoulder bladeHumerusfor the upper arm and bone that runs from your shoulder to your elbow
The condition is named after the Latin names for main areas wheremuscle weaknessoccurs:
This article will review the types offacioscapulohumeralmuscular dystrophy that can develop, what to expect if you have this condition, and how it can be treated.
Types of Facioscapulohumeral Muscular Dystrophy
There are three forms of FSHD. Each type has the same symptoms and progression, but their genetic origins are different.
All forms of FSHD involve defects inchromosome4, which makes different proteins in the body. The chromosome is usually made up of between 11 and 100 repeating pieces.
Who Is Affected?About 1 in 20,000 people develop some type of FSHD.The condition appears to affect men and women equally.
Who Is Affected?
About 1 in 20,000 people develop some type of FSHD.The condition appears to affect men and women equally.
Facioscapulohumeral Muscular Dystrophy 1 (FSHD1)
Specifically, FSHD1 develops as a result of a mutation in the DUX4 gene, which plays a role in the activity of other genes andmuscle cells.
FSHD1 is the most common form of FSHD, affecting about 95% of the people with the disease.
Facioscapulohumeral Muscular Dystrophy 2 (FSHD2)
FSHD2 is clinically identical to FSHD1, but instead of having fewer methyl groups, chromosome 4 has a normal number of methyl group sections that are spread further apart. In this form of FSHD, a gene called SMCHD1 is affected instead of DUX4.
FSHD2 is the more rare form of FSHD, affecting only about 5% of people with the condition.
Early-onset (Infantile) Facioscapulohumeral Muscular Dystrophy
In comparison, 90% to 95% of all FSHD cases develop in adolescence or early adulthood, making the overall prevalence of early-onset FSHD about 1 in 200,000.
A Parent’s Guide to Muscular Dystrophy in Children
The symptoms of FSHD are generally the same regardless of whichgenetic mutationhas caused the condition.
In most people with FSHD, the progressive muscle weakness that characterizes the condition starts around the eyes and mouth and spreads unevenly.
The full spectrum of FSHD symptoms can include:
Symptoms and their severity vary from person to person.
Muscular Dystrophy: Signs, Symptoms, and Complications
In FSHD1, the genetic mutation is usuallyinheritedin an autosomal dominant pattern, which means that only one parent has to carry the genetic mutation for the condition to develop.
FSHD1 can also develop spontaneously while fetuses are developing in the womb. This happens in about 10% to 30% of cases.
How FSHD2 is inherited is less clear, but experts believe that a mutation on chromosome 18 might be involved. As estimated, 60% of FSHD cases are sporadic or do not appear to be inherited.
It’s also possible for people with FSHD to carry both the FSHD1 and FSHD2 mutations.
FSHD is diagnosed based on a number of things, including:
In cases where there is no known family history of FSHD, other tests can be used to determine the cause of your symptoms, such as:
How Is Muscular Dystrophy Diagnosed?
You might need to have regular tests such as:
The primary treatment for FSHD is exercise and physical therapy (PT).Nonsteroidal anti-inflammatory (NSAID)medications and other pain relievers can be used to treat chronic pain and inflammation.
Researchers are also looking at the potential for gene editing and new classes of medications as treatments for FSHD.
PreventionYou cannot prevent or cure FSHD, but you can adopt lifestyle habits to help prevent complications. A nutritious diet, regular exercise, and other lifestyle changes can help you avoid complications that could make your journey with FSHD more difficult.
Prevention
You cannot prevent or cure FSHD, but you can adopt lifestyle habits to help prevent complications. A nutritious diet, regular exercise, and other lifestyle changes can help you avoid complications that could make your journey with FSHD more difficult.
Unlike other forms of muscular dystrophy, FSHD does not usually shorten a person’s lifespan or cause severe disability. FSHD develops slowly and does not usually begin until early adulthood.
For people who have early-onset FSHD that began in childhood, the condition progresses more quickly.Children with FSHDsometimes need mobility assistance or require a wheelchair in their 20s or 30s—or even earlier in rare cases.
In addition to having earlier, more rapidly progressing symptoms, children whose FSHD begins early in life face a higher risk of complications like hearing and vision loss.
Living with chronic disease can be challenging, especially if you have arare disease. If you have FSHD, know that there are organizations that can provide resources and support to you and your loved ones, including:
It’s important to have a good support system and ask for help at home when you need it. Talk with your healthcare team about your needs. They can direct you to local care agencies and home health organizations to assist you.
If your current treatment regimen is not working well enough, you may want to consider enrolling in aresearch studyorclinical trial.
Summary
Facioscapulohumeral muscular dystrophy (FSHD) is a chronic and progressive disease. It does not typically cause the severe disability and shortened lifespan seen with other dystrophies. However, people with more severe forms of the disease may still need to use a wheelchair or other aids eventually.
There is no cure for FSHD, but your healthcare provider can work with you to improve your strength and support your health, as well as try to slow muscle loss.
A Word From Verywell
Facioscapulohumeral muscular dystrophy (FSHD) can cause weakness in the muscles of the face, shoulders, and arms. The progressive weakness can also affect other parts of the body, but it is not usually as severe as other forms of muscular dystrophy. People in advanced stages of the disease may need a wheelchair or other mobility aids, but fatal complications are not common.
Having a good support system is important when it comes to maintaining a good quality of life with FSHD or any chronic medical condition. In addition, participating in a research study or clinical trial may help you improve your health and contribute to discovering new therapies.
Learn MoreHow Genetic Disorders are Inherited
There is no cure for FSHD, but treatments and therapies can help slow the progression of the disease and improve your quality of life.
While surgery to attach the shoulder blade to the chest wall is sometimes used to manage FSHD, the procedure will not cure the condition.
Types of Shoulder Surgeries
8 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Muscular Dystrophy Association.Facioscapulohumeral muscular dystrophy (FSH, FSHD).National Organization for Rare Disorders.Facioscapulohumeral muscular dystrophy.MedlinePlus.Facioscapulohumeral muscular dystrophy.American Academy of Neurology.Facioscapulohumeral muscular dystrophy: summary of evidence-based guidelines for patients and their families.Muscular Dystrophy Association.Facioscapulohumeral muscular dystrophy (FSH, FSHD): causes/inheritance.FSHD Society.Genetic cause.Preston MK, Tawil R, Wang LH.Facioscapulohumeral muscular dystrophy. In: Adam MP, Ardinger HH, Pagon RA, et al, eds.GeneReviews. University of Washington, Seattle; 1993.FSHD Society.Early-onset FSHD.
8 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Muscular Dystrophy Association.Facioscapulohumeral muscular dystrophy (FSH, FSHD).National Organization for Rare Disorders.Facioscapulohumeral muscular dystrophy.MedlinePlus.Facioscapulohumeral muscular dystrophy.American Academy of Neurology.Facioscapulohumeral muscular dystrophy: summary of evidence-based guidelines for patients and their families.Muscular Dystrophy Association.Facioscapulohumeral muscular dystrophy (FSH, FSHD): causes/inheritance.FSHD Society.Genetic cause.Preston MK, Tawil R, Wang LH.Facioscapulohumeral muscular dystrophy. In: Adam MP, Ardinger HH, Pagon RA, et al, eds.GeneReviews. University of Washington, Seattle; 1993.FSHD Society.Early-onset FSHD.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Muscular Dystrophy Association.Facioscapulohumeral muscular dystrophy (FSH, FSHD).National Organization for Rare Disorders.Facioscapulohumeral muscular dystrophy.MedlinePlus.Facioscapulohumeral muscular dystrophy.American Academy of Neurology.Facioscapulohumeral muscular dystrophy: summary of evidence-based guidelines for patients and their families.Muscular Dystrophy Association.Facioscapulohumeral muscular dystrophy (FSH, FSHD): causes/inheritance.FSHD Society.Genetic cause.Preston MK, Tawil R, Wang LH.Facioscapulohumeral muscular dystrophy. In: Adam MP, Ardinger HH, Pagon RA, et al, eds.GeneReviews. University of Washington, Seattle; 1993.FSHD Society.Early-onset FSHD.
Muscular Dystrophy Association.Facioscapulohumeral muscular dystrophy (FSH, FSHD).
National Organization for Rare Disorders.Facioscapulohumeral muscular dystrophy.
MedlinePlus.Facioscapulohumeral muscular dystrophy.
American Academy of Neurology.Facioscapulohumeral muscular dystrophy: summary of evidence-based guidelines for patients and their families.
Muscular Dystrophy Association.Facioscapulohumeral muscular dystrophy (FSH, FSHD): causes/inheritance.
FSHD Society.Genetic cause.
Preston MK, Tawil R, Wang LH.Facioscapulohumeral muscular dystrophy. In: Adam MP, Ardinger HH, Pagon RA, et al, eds.GeneReviews. University of Washington, Seattle; 1993.
FSHD Society.Early-onset FSHD.
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