Facioscapulohumeral muscular dystrophy is a condition that causes muscle weakness and loss of muscle tissue that gets worse over time.
Landouzy-Dejerine muscular dystrophy
Facioscapulohumeral muscular dystrophy is a genetic disease due to a chromosome mutation. 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 is one of the most common forms of muscle dystrophy affecting 1 in 15,000 to 1 in 20,000 adults in the United States. It affects men and women equally.
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 soon after birth (infantile form), 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:
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. This interferes with ability to play sports because of decreased strength and poor balance. The weakness can be severe enough to interfere with walking. A small percentage of people use a wheelchair.
Chronic pain is present in 50% to 80% of people with this type of muscular dystrophy.
Hearing loss and abnormal heart rhythms may occur but are rare.
Presently, facioscapulohumeral muscular dystrophy remains incurable. 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:
Disability is often minor. Lifespan is most often not affected.
Complications may include:
Contact your provider if symptoms of this condition develop.
Genetic counseling is recommended for couples with a family history of this disease who wish to have children.
Published Date: November 09, 2021
Published By: Joseph V. Campellone, MD, Department of Neurology, Cooper Medical School at Rowan University, Camden, NJ. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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