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Facioscapulohumeral Muscular Dystrophy

(Landouzy-Dejerine Muscular Dystrophy)

By

Michael Rubin

, MDCM, New York Presbyterian Hospital-Cornell Medical Center

Medically Reviewed Jan 2022 | Modified Sep 2022
VIEW PROFESSIONAL VERSION

Facioscapulohumeral muscular dystrophy is the most common form of muscular dystrophy. The muscles of the face and shoulder are affected.

Facioscapulohumeral muscular dystrophy (FSHMD) is inherited via an autosomal dominant gene Dominant x-linked disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more . Therefore, a single abnormal gene is sufficient to cause the disorder, and the disorder can appear in either males or females. It is the most common form of muscular dystrophy and occurs in about 7 out of 1,000 people.

Symptoms

Symptoms of facioscapulohumeral muscular dystrophy usually begin gradually between the ages of 7 and 20. The facial and shoulder muscles are always affected, so a child has difficulty whistling, closing the eyes tightly, or raising the arms. Some people with the disease also develop a footdrop (the foot flops down). People also frequently have hearing loss and eye problems.

The weakness is rarely severe, and many people are not disabled and have a normal life expectancy. However, other people need to use a wheelchair in adulthood. In one form that develops in infancy, children have rapidly progressive muscle weakness and severe disability.

Diagnosis

  • Genetic testing

Treatment

More Information

The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.

NOTE: This is the Consumer Version. DOCTORS: VIEW PROFESSIONAL VERSION
VIEW PROFESSIONAL VERSION
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