Facioscapulohumeral muscular dystrophy (FSHD) is a genetic condition that can lead to the slow deterioration of muscles, predominantly in the face, shoulder blades, and upper arms.

Facioscapulohumeral muscular dystrophy (FSHD) can also affect the lower legs, feet, and hip girdle.

Read on to learn more about the symptoms of FSHD. This article also looks at how FSHD progresses, what causes the condition, treatment options, and more.

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Symptoms of FSHD can vary widely from person to person. However, FSHD typically affects the muscles of the face, shoulder blades, and upper arms before presenting symptoms elsewhere in the body.

Symptoms of FSHD can include:

  • difficulty moving or puckering the lips
  • difficulty fully closing the eyes
  • scapular winging, or protruding shoulder blades
  • difficulty lifting the arms past shoulder height
  • sagging of the collarbone
  • trouble flexing or bending the foot
  • swaying or lurching toward one side when walking
  • curving of the lower back
  • changes to gait, such as waddling
  • difficulty standing up from a chair or climbing the stairs
  • mild hearing loss
  • pain and inflammation in the:
    • shoulders
    • neck
    • lower legs
    • lower back

Typically, FSHD progresses slowly over time. However, it is common for a person to experience periods of slow progression followed by a sudden deterioration.

Research from 2020 suggests that approximately 20% of people with FSHD will eventually require the use of a wheelchair.

FSHD is a genetic condition. A person can inherit it from one or both biological parents.

Chromosome 4 contains genes responsible for making proteins that perform various tasks in the body. When a person has FSHD, changes can occur to a part of chromosome 4 that contains the DUX4 gene.

This can cause the production of DUX4 proteins, which can then appear in the cells of muscle tissues in which they do not typically reside. This can lead to the weakening and deterioration of muscles that are characteristic of FSHD.

A person typically inherits FSHD in an autosomal dominant pattern. This is when someone inherits one gene mutation from only one biological parent. However, in some cases, the condition can also develop without a family history of FSHD.

Learn more about autosomal inheritance.

Symptoms of FSHD typically present during teenage years, typically by the age of 20 years.

However, a person may experience symptoms during childhood or not until later in adult life.

The most reliable way for a doctor to reach an accurate diagnosis is by genetic testing.

A doctor may also perform blood tests to check levels of the enzyme creatine kinase (CK). CK levels can be up to 5 times higher than the typical limit when a person with FSHD is experiencing symptoms.

Another test a doctor may use to diagnose FSHD is electromyography (EMG), which measures electrical activity levels in the muscles.

However, if genetic testing presents a positive diagnosis, further testing is typically unnecessary.

Although there is no cure for FSHD, several treatments may help a person manage their symptoms.

Treatments will vary depending on the symptoms a person experiences and can include:

  • anti-inflammatory medications to help reduce pain and inflammation and increase mobility
  • physical therapy to help maintain mobility and reduce pain
  • mobility aids to help with daily tasks
  • surgery to help stabilize the shoulder blades
  • speech therapy to help with any hearing loss or facial weakness

A person’s doctor can advise on what treatments they recommend according to their circumstances.

FSHD affects approximately 1 in every 15,000 to 21,000 individuals in the United States, according to 2023 research.

It is the third most common type of muscular dystrophy.

Below are answers to common questions about facioscapulohumeral muscular dystrophy.

What is the first symptom of facioscapulohumeral muscular dystrophy?

The first symptom of FSHD can vary. The most common first symptom of FSHD may be either difficulty lifting the arms above shoulder height or protruding shoulder blades due to muscle weakness in the shoulder area.

According to the National Institute of Neurological Disorders and Stroke, the first symptom of FSHD is typically a weakening of the muscles around the eyes and mouth.

What is the life expectancy of someone with FSHD?

According to 2023 research, having FSHD does not affect life expectancy.

What is the difference between muscular dystrophy and FSHD?

Muscular dystrophy is a group of genetic conditions that lead to the gradual weakening and deterioration of muscles in the body. FSHD is a type of muscular dystrophy that predominantly affects the facial, shoulder, and upper arm muscles.

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic muscle disorder that typically causes the gradual weakening and deterioration of the muscles in the face, shoulders, and upper arms.

Symptoms can range in severity from person to person. They can include difficulty using the facial muscles, protruding shoulder blades, difficulty lifting the arms past shoulder height, and mild hearing loss.

FSHD typically presents symptoms during the teenage years. However, a person may experience symptoms in childhood or later in adult life.

There is currently no known cure for FSHD, but treatments such as physical therapy, physical aids, and surgery may help a person manage their symptoms.