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Emery-Dreifuss autosomal dominant syndrome
Associated persons:
Fritz Emanuel Dreifuss
Alan Eglin Heathcote Emery
Description:
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.
Bibliography:
- 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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