Facioscapulohumeral muscular dystrophy (FSHD) is the third most common pop in ofmuscular dystrophy.
Types of Facioscapulohumeral Muscular Dystrophy
There are three forms of FSHD.
Each jot down has the same symptoms and progression, but their genetic origins are different.
Verywell / Michela Buttignol
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 bang out of FSHD.The condition appears to affect men and women equally.
FSHD1 is the most common form of FSHD, affecting about 95% of the people with the disease.
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 or infantile FSHD can develop from either the FSHD1 or FSHD2 mutation.
It usually presents with facial weakness before age 5 and weakness in the shoulder or arms by age 10.
Symptoms
The symptoms of FSHD are generally the same regardless of whichgenetic mutationhas caused the condition.
The full spectrum of FSHD symptoms can include:
Symptoms and their severity vary from person to person.
Causes
In most cases, FSHD is an inherited condition.
It is triggered by a genetic mutation that affects the proteins that make your muscles work properly.
FSHD1 can also develop spontaneously while fetuses are developing in the womb.
This happens in about 10% to 30% of cases.
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.
Researchers are also looking at the potential for gene editing and new classes of medications as treatments for FSHD.
In rare cases, surgery to attach the shoulder blades to the chest wall is considered.
FSHD develops slowly and does not usually begin until early adulthood.
Coping
Living with chronic disease can be challenging, especially if you have arare disease.
Talk with your healthcare team about your needs.
They can direct you to local care agencies and home health organizations to assist you.
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.
Muscular Dystrophy Association.Facioscapulohumeral muscular dystrophy (FSH, FSHD).
National Organization for Rare Disorders.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.
Preston MK, Tawil R, Wang LH.Facioscapulohumeral muscular dystrophy.
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