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Emery-Dreifuss Dystrophy

By

Michael Rubin

, MDCM, New York Presbyterian Hospital-Cornell Medical Center

Last full review/revision Jan 2022| Content last modified Jan 2022
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Emery-Dreifuss dystrophy is a muscular dystrophy with multiple modes of inheritance. In addition to weakness and muscle wasting, patients often have cardiac abnormalities that may cause sudden death. Treatment is symptomatic.

Muscular dystrophies are inherited, progressive muscle disorders resulting from defects in one or more genes needed for normal muscle structure and function; dystrophic changes (eg, muscle fiber necrosis and regeneration) are seen on biopsy specimens.

Genes associated with Emery-Dreifuss dystrophy encode for the following nuclear membrane proteins:

  • Lamin A/C (autosomal)

  • Emerin (X-linked)

  • Nesprin-1 and nesprin-2

  • FHL1

  • LUMA

  • SUN1 and SUN2

  • Titin (a sarcomere protein)

Symptoms and Signs of Emery-Dreifuss Dystrophy

Diagnosis of Emery-Dreifuss Dystrophy

  • DNA mutation analysis

  • Sometimes muscle biopsy

Diagnosis of Emery-Dreifuss dystrophy is indicated by clinical findings, age at onset, and family history.

The diagnosis is supported by mildly increased serum creatine kinase levels and myopathic features on electromyography. Mutation analysis of DNA from peripheral blood leukocytes is the primary confirmatory test. If genetic testing does not confirm the diagnosis, then muscle biopsy can be done.

Treatment of Emery-Dreifuss Dystrophy

  • Therapy to prevent contractures

Treatment of Emery-Dreifuss dystrophy involves therapy to prevent contractures.

More Information

The following are some English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources.

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