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Facioscapulohumeral Muscular Dystrophy

(Landouzy-Dejerine Muscular Dystrophy)

By

Michael Rubin

, MDCM, New York Presbyterian Hospital-Cornell Medical Center

Last full review/revision Jul 2020| Content last modified Jul 2020
Click here for the 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

The diagnosis of facioscapulohumeral muscular dystrophy is based on characteristic symptoms, the person's age when symptoms began, family history, and the results of genetic testing Genetic Screening Genetic screening is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder. Hereditary genetic disorders are disorders of chromosomes or... read more .

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.

  • Muscular Dystrophy Association: Information on research, treatment, technology, and support for people living with facioscapulohumeral muscular dystrophy

NOTE: This is the Consumer Version. DOCTORS: Click here for the Professional Version
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