Emery-Dreifuss syndrome

Alternative eponyms

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A slowly progressive muscular dystrophy with onset in childhood, mainly characterised by contractures of the elbow, ankle, and spine.

Description

A slowly progressive muscular dystrophy with onset in childhood, usually at age 4 to 5 years. It is mainly characterised by contractures of the elbow, ankle, and spine. Muscle weakness first involves the lower limbs at the age of 4 to 5 years, causing the affected children to walk on their toes. Waddling gait, lumbar lordosis, and weakness of the shoulder girdle become apparent during adolescence. Mild pectus excavatum may be present. Cardiac complications include atrial rhythm and conduction disorders, which range from PR prolongation to P waves to permanent atrial paralysis and complete, frequently fatal heart block, usually before the age of 55 years. Mental retardation. Inheritance is X-chromosomal recessive. It can be inherited as an autosomal dominant trait in some instances, and both genetic forms may in some cases have a neurogenic basis.

The syndrome was first described in 1902 by the French neurologists Raymond Cestan and N. J. LeJonne. Dreifuss and Hogan, and in 1966 again Emery and Dreifuss, studied a Virginia kindred in which there were 8 affected males in 3 generations in a typical X-linked pedigree pattern. Onset of muscle weakness, first affecting the lower extremities with a tendency to walk on the toes, was noted around the age of 4 or 5 years. By the early teens waddling gait with increased lumbar lordosis was marked and weakness of the shoulder girdle musculature appeared later. Slow progression with continued gainful employment is the rule.

The German human geneticist Peter Emil Becker (born 1908) in 1972 republished illustrations of typical cases reported by Cestan and LeJonne in 1902.

In 1987 Emery reinvestigated the original Virginia family. He confirmed that cardiomyopathy, presenting most often as atrioventricular block, is a significant feature of the disease. In 1989 Emery insisted that the designation scapuloperoneal syndrome should be reserved for the autosomal dominant disorder, which can be either myopathic or more often neuropathic, has later onset (in adulthood) with late development of contractures, and does not show cardiac conduction defects.

Rudenska et al in 1994 described Emery-Dreifuss muscular dystrophy in 4 generations of a family and concluded that the inheritance was autosomal dominant. The pedigree was also consistent with X-linked dominant inheritance, since all daughters of affected males were affected.

Bibliography

  • R. Céstan, N. J. LeJonne:
    Une myopathie avec rétractions familiales.
    Nouvelle iconographie de la Salpêtrière, Paris, 1902, 15: 38-52.
  • F. E. Dreifuss, G. R. Hogan:
    Survival in X-chromosomal muscular dystrophy.
    Neurology, Minneapolis, 1961, 11: 734-737.
  • A. E. H. Emery, F. E. Dreifuss:
    Unusual type of benign X-linked muscular dystrophy.
    Journal of Neurology, Neurosurgery and Psychiatry, London, 1966, 29: 338-342.
  • P. E. Becker:
    Neues zur Genetik und Klassifikation der Muskeldystrophien.
    Humangenetik, Berlin, 1972, 17: 1-22.
  • A. E. H. Emery:
    X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type).
    Clinical Genetics, Copenhagen, 1987, 32: 360-367.
  • A. E. H. Emery:
    Emery-Dreifuss syndrome.
    Journal of Medical Genetics, London, 1989, 26: 637-641.
  • G. E. Rudenskaya, E. K. Ginter, A. N. Petrin, N. A. Djomina:
    Emery-Dreifuss syndrome: genetic and clinical varieties.
    American Journal of Medical Genetics, New York, 1994, 50: 228-233.

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