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Facioscapulohumeral Muscular Dystrophy

Last updated Sept. 11, 2018

Facioscapulohumeral Muscular Dystrophy (FSHD) is an inherited, genetic neuromuscular disorder. It is characterized by muscle weaknesses and loss of muscle tissues that worsen with the passage of time.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Facio-Scapulo-Humeral Dystrophy
  • Facioscapuloperoneal Muscular Dystrophy
  • Landouzy Dejerine Muscular Dystrophy

What is Facioscapulohumeral Muscular Dystrophy? (Definition/Background Information)

  • Facioscapulohumeral Muscular Dystrophy (FSHD) is an inherited, genetic neuromuscular disorder. It is characterized by muscle weaknesses and loss of muscle tissues that worsen with the passage of time
  • It mainly affects the upper part of the body such as the face, shoulder, and upper arm muscles. It may also affect the muscles around the pelvis, hips, and lower leg
  • This disorder is caused by mutation involving the long arm of chromosome 4
  • Presently, there is no cure or preventive measures available for Facioscapulohumeral Muscular Dystrophy
  • FSHD is not a fatal condition and individuals have a normal life span

Who gets Facioscapulohumeral Muscular Dystrophy? (Age and Sex Distribution)

  • Any individual is likely to be affected by Facioscapulohumeral Muscular Dystrophy. The symptoms of FSHD usually begins before the age of 20 years, but it may occur during infancy too
  • Both males and females are affected
  • This condition is observed worldwide, among all racial and ethnic groups

What are the Risk Factors for Facioscapulohumeral Muscular Dystrophy? (Predisposing Factors)

Facioscapulohumeral Muscular Dystrophy is a genetic and inherited disease. Hence, the major risk factor for acquiring this disease is family history of the disorder.

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of  Facioscapulohumeral Muscular Dystrophy? (Etiology)

  • Facioscapulohumeral Muscular Dystrophy is a genetic condition that is inherited in an autosomal dominant pattern. This means that mutation involving only one copy of the gene is enough to cause this disorder (either of the parents must carry the defective gene to pass it on to the child)
  • FSHD is caused by  mutation involving the long arm of chromosome 4

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly functioning gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring. 

What are the Signs and Symptoms of Facioscapulohumeral Muscular Dystrophy?

The signs and symptoms associated with Facioscapulohumeral Muscular Dystrophy include:

  • Weakness of the facial muscles, which may cause:
    • Drooping of the eyelid
    • Difficulty in whistling     
    • Difficult to drink from a straw
    • Difficulty in closing the eyes while sleeping
    • Difficulty in turning up the corner of mouth while smiling
    • Experiencing difficulty while pronouncing words
    • Depression on the face
    • Angry expression on the face
  • Excessive pain and weakness of the shoulders
  • Difficulty in raising the arms above the shoulder, due to shoulder and arm muscle weakness
  • Lower legs become weak and it affects walking; many individuals may require the assistance of wheel-chairs 

How is Facioscapulohumeral Muscular Dystrophy Diagnosed?

The following procedures are performed for the diagnosis of Facioscapulohumeral Muscular Dystrophy:

  • Physical examination that brings out the weakness of the facial and shoulder muscles
  • A high blood pressure could be an indicative sign of the condition
  • An eye examination may reveal changes in the blood vessels at the back of the eye

Other tests that may be performed include:

  • Creatine Kinase test: A test that is performed to measure the amount of creatine phosphokinase (CPK) in blood
  • Electrocardiogram: Test to record the electrical activity of the heart
  • Electromyography: Test to check the status of the muscles and of the nerves that control the muscles
  • Fluorescein angiography: A special eye test conducted to check the flow of blood in the retina and choroid
  • Genetic testing
  • Hearing tests
  • Muscle biopsy: A small piece of the muscle tissue is removed and sent for testing in the laboratory. A pathologist may examine the sample under a microscope to establish a diagnosis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis. 

What are the possible Complications of Facioscapulohumeral Muscular Dystrophy?

The possible complications of Facioscapulohumeral Muscular Dystrophy include:

  • Movement becomes limited
  • Self-care is no longer possible, or it becomes totally impossible
  • Deformities starts appearing in the face and shoulders
  • Loss of hearing capacity
  • Loss of vision
  • Weakness of abdominal muscles causing protuberant abdomen
  • Coat’s syndrome: A congenital, non-hereditary eye disorder that leads to partial or complete vision loss
  • Mental impairment
  • Seizures
  • Hypertension
  • Atrial arrhythmias: Abnormal heart rhythm or heart beats
  • Respiratory complications

How is Facioscapulohumeral Muscular Dystrophy Treated?

There is no cure for Facioscapulohumeral Muscular Dystrophy. The treatment is aimed at reducing severity of the symptoms and preventing complications. Some of the possible treatment methods include:

  • Physical therapy to strengthen the muscles
  • Oral albuteral to increase muscle mass
  • Speech therapy
  • Surgery to rectify deformed scapula
  • Use of walking aids and foot supporting devices

How can Facioscapulohumeral Muscular Dystrophy be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Facioscapulohumeral Muscular Dystrophy, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Facioscapulohumeral Muscular Dystrophy? (Outcomes/Resolutions)

  • Facioscapulohumeral Muscular Dystrophy is not a fatal disorder and individuals are able to have a normal life span
  • The progress of the disorder is very slow; in rare cases, the heart and respiratory systems may be affected

Additional and Relevant Useful Information for Facioscapulohumeral Muscular Dystrophy:

The following DoveMed website link is a useful resource for additional information:

https://www.dovemed.com/diseases-conditions/congenital-genetic-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Sept. 14, 2015
Last updated: Sept. 11, 2018