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Facioscapulohumeral muscular dystrophy
Landouzy-Dejerine muscular dystrophy
Facioscapulohumeral muscular dystrophy is muscle weakness and loss of muscle tissue that gets worse over time.
Muscle weakness
Weakness is reduced strength in one or more muscles.
Causes
Facioscapulohumeral muscular dystrophy affects the upper body. It is not the same as Duchenne muscular dystrophy and Becker muscular dystrophy , which affect the lower body.
Duchenne muscular dystrophy
Duchenne muscular dystrophy is an inherited disorder. It involves muscle weakness, which quickly gets worse.
Becker muscular dystrophy
Becker muscular dystrophy is an inherited disorder that involves slowly worsening muscle weakness of the legs and pelvis.
Facioscapulohumeral muscular dystrophy is a genetic disorder. It appears in both men and women. It may develop in a child if either parent carries the gene for the disorder. In 10% to 30% of cases, the parents do not carry the gene.
Facioscapulohumeral muscular dystrophy affects about 5 out of 100,000 people. It affects men and women equally.
Symptoms
Men often have more symptoms than women.
Facioscapulohumeral muscular dystrophy mainly affects the face, shoulder, and upper arm muscles. However, it can also affect muscles around the pelvis, hips, and lower leg.
Symptoms can appear after birth, but often they do not appear until age 10 to 26. However, it is not uncommon for symptoms to appear much later in life. In some cases, symptoms never develop.
Symptoms are most often mild and very slowly become worse. Muscle weakness of the face is common, and may include:
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Eyelid drooping
Eyelid drooping
Ptosis (eyelid drooping) in infants and children is when the upper eyelid is lower than it should be. This may occur in one or both eyes. Eyelid dr...
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- 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. A small percentage of people use a wheelchair.
Hearing loss and abnormal heart rhythms may occur, but are rare.
Exams and Tests
A physical exam will show weakness of the face 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:
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Creatine kinase test
(may be slightly high)
Creatine kinase test
Creatine phosphokinase (CPK) is an enzyme in the body. It is found mainly in the heart, brain, and skeletal muscle. This article discusses the test...
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Electrocardiogram
(EKG)
Electrocardiogram
An electrocardiogram (ECG) is a test that records the electrical activity of the heart.
ImageRead Article Now Book Mark Article -
EMG
(electromyography)
EMG
Electromyography (EMG) is a test that checks the health of the muscles and the nerves that control the muscles.
ImageRead Article Now Book Mark Article -
Fluorescein angiography
Fluorescein angiography
Fluorescein angiography is an eye test that uses a special dye and camera to look at blood flow in the retina and choroid. These are the two layers ...
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- Hearing tests
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Muscle biopsy
(may confirm the diagnosis)
Muscle biopsy
A muscle biopsy is the removal of a small piece of muscle tissue for examination.
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Treatment
There is no known cure for facioscapulohumeral muscular dystrophy. Treatments are given to control symptoms and improve quality of life. Activity is encouraged. Inactivity such as bedrest can make the muscle disease worse.
Physical therapy may help maintain muscle strength. Other possible treatments include:
- Oral albuterol to increase muscle mass (but not strength)
- Speech therapy
- Surgery to fix a winged scapula
- Walking aids and foot support devices
Outlook (Prognosis)
Disability is often minor. Lifespan is most often not affected.
Possible Complications
Complications may include:
- Decreased mobility
- Decreased ability to care for self
- Deformities of the face and shoulders
- Hearing loss
- Vision loss (rare)
When to Contact a Medical Professional
Call 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.
References
Preston DC, Shapiro BE. Proximal, distal, and generalized weakness. In: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice . 7th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 27.
Sarnat HB. Muscular dystrophies. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 609.
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Superficial anterior muscles - illustration
Superficial muscles are close to the surface of the skin. Muscles which lie closer to bone or internal organs are called deep muscles.
Superficial anterior muscles
illustration
Review Date: 11/19/2015
Reviewed By: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
