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Emery-Dreifuss Dystrophy

By

Michael Rubin

, MDCM, Weill Cornell Medical College

Last full review/revision Jul 2020| Content last modified Jul 2020
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NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version

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.

Emery-Dreifuss dystrophy can be inherited as an autosomal dominant, autosomal recessive (the rarest), or X-linked recessive disorder. The overall incidence is unknown. Females can be carriers, but only males are affected clinically by X-linked inheritance.

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

  • Lamin A/C (autosomal)

  • Emerin (X-linked)

Symptoms and Signs

Muscle weakness and wasting can begin any time before age 20 and commonly affect the biceps and triceps and, less often, distal leg muscles. Early contractures are characteristic. The heart is frequently involved, with atrial paralysis, conduction abnormalities (atrioventricular block), cardiomyopathy, and a high likelihood of sudden death.

Diagnosis

  • 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

  • Therapy to prevent contractures

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

Cardiac pacemakers are sometimes lifesaving in patients with abnormal cardiac conduction.

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.

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

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