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Emery-Dreifuss autosomal dominant syndrome

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A syndrome affecting both sexes with onset of myopathy between 17 to 42 years of age, cardiac signs later. Muscle contractures, neck stiffness slowly progressing; weakness of humeral and peroneal muscles, pelvic involvement, tendon areflexia. Atrial fibrillation, heart block, heart failure. Aetiology unknown. Autosomal dominant inheritance. Clinically overlapping with Charcot-Marie-Tooth syndrome and Kugelberg-Welander syndrome and other X-linked scapuloperoneal conditions. See also Brossard-Kaeser syndrome and Emery-Dreifuss syndrome.

The syndromes referred to are found under:
Jean-Martin Charcot, French neurologist, 1825-1893.
Gunnar Wohlfart, Swedish neurologist.
J. Brossard, 19th century French neurologist.


  • R. G. Miller, R. B. Layzer, M. A. Mellenthin, et al:
    Emery-Dreifuss muscular dystrophy with autosomal dominant transmission.
    Neurology, Cleveland, Ohio, 1985, 35: 1230-1233.

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