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Facioscapulohumeral muscular dystrophy is progressive muscle weakness and loss of muscle tissue.
See also: Muscular dystrophy
Alternative NamesLandouzy-Dejerine muscular dystrophy
Causes, incidence, and risk factorsFacioscapulohumeral muscular dystrophy affects the upper body, unlike Duchenne muscular dystrophy and Becker muscular dystrophy, which affect the lower body.
Facioscapulohumeral muscular dystrophy is a genetic disorder. It appears in both men and women and may develop in a child if either parent carries the gene for the disorder.
Facioscapulohumeral muscular dystrophy affects approximately 5 out of 100,000 people. It affects men and women equally.
SymptomsFacioscapulohumeral muscular dystrophy mainly affects the face, shoulder, and upper arm muscles. However, it can affect muscles around the pelvis, hips, and lower leg.
Symptoms often do not appear until age 10 - 26, but it is not uncommon for symptoms to appear much later. In some cases, symptoms never develop.
Symptoms are usually mild and very slowly become worse. Facial muscle weakness is common, and may include:
- Eyelid drooping
- Inability to whistle
- Decreased facial expression
- Depressed or angry facial expression
- Difficulty pronouncing words
Shoulder muscle weakness causes deformities such as pronounced shoulder blades (scapular winging) and sloping shoulders. The person has difficulty raising the arms because of shoulder and arm muscle weakness.
Weakness of the lower legs is possible as the disorder gets worse. The weakness can be severe enough to interfere with walking.
Hearing loss and abnormal heart rhythms may occur, but are rare.
Signs and testsA physical examination reveals weakness of the facial and shoulder muscles. High blood pressure may be noted but is usually mild. An eye exam may show changes in the blood vessels in the back of the eye.
Tests that may be done include:
- Creatine kinasetest (may be slightly high)
- Electrocardiogram (EKG)
- EMG(electromyography)
- Genetic testing of chromosome 4
- Hearing test
- Muscle biopsy(may confirm the diagnosis)
There is no known cure for facioscapulohumeral muscular dystrophy. Treatments are given to control symptoms and improve the person's quality of life. Activity is encouraged. Inactivity such as bedrest can make the muscle disease worse. Physical therapy may help maintain muscle strength.
Expectations (prognosis)Disability is often minor. Lifespan is usually not affected.
Complications- Decreased mobility
- Decreased ability to care for self
- Deformities of the face and shoulders
- Hearing loss
- Vision loss (rare)
Call for an appointment with your health care provider if symptoms of this condition develop.
Genetic counseling is recommended for couples with a family history of this condition who wish to have children.
ReferencesKliegman RM, Behrman RE, Jenson HB, Stanton BF. Muscular dystrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 608.
What else can I help you with?
What is the name of the disease in which a person sleeps with open eyes?
It could be facioscapulohumeral muscular dystrophy.
How does facioscapulohumeral muscular syndrome effected the sexual life of men?
Let me first correct you.There is no such thing as facioscapulohumeral muscular syndrome. There is only facioscapulohumeral muscular dystrophy and i don't know if you meant that but if you did then use a little imagination!And really?Asking this type of question??
How do you get facioscapulohumeral?
Facioscapulohumeral muscular dystrophy is a disorder where the muscles are weakened and wasting away. The muscles in the face, around the shoulder blades, and in the upper arms are the ones that are affected the most.
What has the author Philip Edward Jardine written?
Philip Edward Jardine has written: 'A clinical and molecular study of facioscapulohumeral muscular dystrophy'
When was Muscular Dystrophy Association created?
Muscular Dystrophy Association was created in 1950.
Can muscular dystrophy happen to adults?
Yes, muscular dystrophy can occur in adults. Although muscular dystrophy (MD) is linked with childhood, some types of MD develop later in life. These include myotonic dystrophy, facioscapulohumeral muscular dystrophy (FSHD), and some forms of limb-girdle muscular dystrophy. In adults, generally, muscle weakness appears slowly. Common signs of it include difficulty climbing stairs, trouble lifting objects, muscle stiffness, and frequent tripping or falls. Because the changes happen over time, many people dismiss the symptoms as aging or lack of fitness. But, persistent or worsening muscle weakness should not be ignored and if you or your loved ones are experiencing these signs, you should immediately talk to a doctor. A medical evaluation can help you identify the cause and guide appropriate treatment, therapy, and long-term care.
What is mixed muscular dystrophy?
The term "mixed muscular dystrophy" is not an established diagnosis. Some authors use the term for cases that have features of more than one type of muscular dystrophy or when the diagnosis is uncertain. Muscular dystrophy is a group of genetic diseases that are characterized by progressive muscle degeneration and weakness. There are several types of the disease, including Duchenne and Becker muscular dystrophy, limb-girdle muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. Each type has different genetic and clinical features, such as different patterns of muscle weakness, varying degrees of severity, different ages of onset, and different rates of progression. In cases where the symptoms are not typical for any of the types or the diagnosis is unclear, genetic testing, muscle imaging, creatine kinase levels, electromyography, and muscle biopsy (if necessary) can help identify the specific cause of the disease. The treatment of muscular dystrophy is largely dependent on the type of the disease and can include physical therapy and individualized exercise programs, corticosteroids and other immunosuppressive drugs, the use of mobility aids, monitoring of lung and heart function, and genetic counseling. A definitive diagnosis is critical to determining the most appropriate course of treatment since the prognosis and therapeutic interventions may vary significantly depending on the type of muscular dystrophy.
When was Muscular Dystrophy Family Foundation created?
Muscular Dystrophy Family Foundation was created in 1958.
When was Muscular Dystrophy Campaign Trailblazers created?
Muscular Dystrophy Campaign Trailblazers was created in 2008.
What is muscular dystrophy?
Muscular dystrophy (MD) is a genetic disorder that weakens the muscles that help the body move.
Muscular system diseases?
muscle aches? Per a physician, they indicated muscular dystrophy which includes over 100 forms of the muscular dystrophy.
What is an important congential muscular disease that results in the degeneration of the skeletal muscles by young adulthood called?
Duchenne muscular dystrophy
