Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1989 Oct;26(10):637–641. doi: 10.1136/jmg.26.10.637

Emery-Dreifuss syndrome.

A E Emery 1
PMCID: PMC1015715  PMID: 2685312

Abstract

Emery-Dreifuss muscular dystrophy is characterised by the triad of (1) early contractures of the elbows, Achilles tendons, and postcervical muscles; (2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution in the early stages; and (3) a cardiomyopathy usually presenting as heart block. The early recognition of the condition is essential because the insertion of a cardiac pacemaker can be life saving. The disorder is usually inherited as an X linked recessive trait (linked to DNA markers around Xq28). However, occasionally it can be inherited as an autosomal dominant trait and there is an indication that this and the X linked form may in some cases have a neurogenic basis. For these reasons it has recently been proposed that the appellation 'Emery-Dreifuss syndrome' be used for this triad of symptoms and signs.

Full text

PDF
637

Images in this article

638Image
on p.638

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Arahata K., Ishiura S., Ishiguro T., Tsukahara T., Suhara Y., Eguchi C., Ishihara T., Nonaka I., Ozawa E., Sugita H. Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature. 1988 Jun 30;333(6176):861–863. doi: 10.1038/333861a0. [DOI] [PubMed] [Google Scholar]
  2. BECKER P. E., KIENER F. Eine neue x-chromosomale Muskeldystrophie. Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr. 1955;193(4):427–448. doi: 10.1007/BF00343141. [DOI] [PubMed] [Google Scholar]
  3. BECKER P. E. Neue Ergebnisse der Genetik der Muskeldystrophien. Acta Genet Stat Med. 1957;7(2):303–310. [PubMed] [Google Scholar]
  4. BECKER P. E. Two families of benign sex-linked recessive muscular dystrophy. Rev Can Biol. 1962 Sep-Dec;21:551–566. [PubMed] [Google Scholar]
  5. Bailey R. O., Dentinger M. P., Toms M. E., Hans M. B. Benign muscular dystrophy with contractures: a new syndrome? Acta Neurol Scand. 1986 Apr;73(4):439–443. doi: 10.1111/j.1600-0404.1986.tb03302.x. [DOI] [PubMed] [Google Scholar]
  6. Becker P. E. Dominant autosomal muscular dystrophy with early contractures and cardiomyopathy (Hauptmann-Thannhauser). Hum Genet. 1986 Oct;74(2):184–184. doi: 10.1007/BF00282089. [DOI] [PubMed] [Google Scholar]
  7. Bergia B., Sybers H. D., Butler I. J. Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy. J Neurol Neurosurg Psychiatry. 1986 Dec;49(12):1423–1426. doi: 10.1136/jnnp.49.12.1423. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Chakrabarti A., Pearce J. M. Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features. J Neurol Neurosurg Psychiatry. 1981 Dec;44(12):1146–1152. doi: 10.1136/jnnp.44.12.1146. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Dickey R. P., Ziter F. A., Smith R. A. Emery-Dreifuss muscular dystrophy. J Pediatr. 1984 Apr;104(4):555–559. doi: 10.1016/s0022-3476(84)80546-6. [DOI] [PubMed] [Google Scholar]
  10. Emery A. E. X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type). Clin Genet. 1987 Nov;32(5):360–367. doi: 10.1111/j.1399-0004.1987.tb03302.x. [DOI] [PubMed] [Google Scholar]
  11. Galassi G., Modena M. G., Benassi A., Nemni R., Gibertoni M., Volpi G., Colombo A. Autosomal-dominant dystrophy with humeroperoneal weakness and cardiopathy: a genetic variant of Emery-Dreifuss disease? Ital J Neurol Sci. 1986 Feb;7(1):125–132. doi: 10.1007/BF02230430. [DOI] [PubMed] [Google Scholar]
  12. Goldblatt J., Schram L. J., Wallis G., Oswald A., Beighton P. Emery-Dreifuss syndrome and X-linked muscular dystrophy with contractures: evidence for homogeneity. Clin Genet. 1989 Jan;35(1):1–4. doi: 10.1111/j.1399-0004.1989.tb02898.x. [DOI] [PubMed] [Google Scholar]
  13. Goto I., Ishimoto S., Yamada T., Hara H., Kuroiwa Y. The rigid spine syndrome and Emery-Dreifuss muscular dystrophy. Clin Neurol Neurosurg. 1986;88(4):293–298. doi: 10.1016/s0303-8467(86)80049-x. [DOI] [PubMed] [Google Scholar]
  14. Hara H., Nagara H., Mawatari S., Kondo A., Sato H. Emery-Dreifuss muscular dystrophy. An autopsy case. J Neurol Sci. 1987 Jun;79(1-2):23–31. doi: 10.1016/0022-510x(87)90256-5. [DOI] [PubMed] [Google Scholar]
  15. Hodgson S., Boswinkel E., Cole C., Walker A., Dubowitz V., Granata C., Merlini L., Bobrow M. A linkage study of Emery-Dreifuss muscular dystrophy. Hum Genet. 1986 Dec;74(4):409–416. doi: 10.1007/BF00280495. [DOI] [PubMed] [Google Scholar]
  16. Hoffman E. P., Fischbeck K. H., Brown R. H., Johnson M., Medori R., Loike J. D., Harris J. B., Waterston R., Brooke M., Specht L. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med. 1988 May 26;318(21):1363–1368. doi: 10.1056/NEJM198805263182104. [DOI] [PubMed] [Google Scholar]
  17. Hopkins L. C., Jackson J. A., Elsas L. J. Emery-dreifuss humeroperoneal muscular dystrophy: an x-linked myopathy with unusual contractures and bradycardia. Ann Neurol. 1981 Sep;10(3):230–237. doi: 10.1002/ana.410100306. [DOI] [PubMed] [Google Scholar]
  18. Mabry C. C., Roeckel I. E., Munich R. L., Robertson D. X-linked pseudohypertrophic muscular dystrophy with a late onset and slow progression. N Engl J Med. 1965 Nov 11;273(20):1062–1070. doi: 10.1056/NEJM196511112732002. [DOI] [PubMed] [Google Scholar]
  19. Mawatari S., Katayama K. Scapuloperoneal muscular atrophy with cardiopathy. An X-linked recessive trait. Arch Neurol. 1973 Jan;28(1):55–59. doi: 10.1001/archneur.1973.00490190073010. [DOI] [PubMed] [Google Scholar]
  20. Merlini L., Granata C., Dominici P., Bonfiglioli S. Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature. Muscle Nerve. 1986 Jul-Aug;9(6):481–485. doi: 10.1002/mus.880090602. [DOI] [PubMed] [Google Scholar]
  21. Oswald A. H., Goldblatt J., Horak A. R., Beighton P. Lethal cardiac conduction defects in Emery-Dreifuss muscular dystrophy. S Afr Med J. 1987 Oct 17;72(8):567–570. [PubMed] [Google Scholar]
  22. Poewe W., Willeit H., Sluga E., Mayr U. The rigid spine syndrome--a myopathy of uncertain nosological position. J Neurol Neurosurg Psychiatry. 1985 Sep;48(9):887–893. doi: 10.1136/jnnp.48.9.887. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Romeo G., Roncuzzi L., Sangiorgi S., Giacanelli M., Liguori M., Tessarolo D., Rocchi M. Mapping of the Emery-Dreifuss gene through reconstruction of crossover points in two Italian pedigrees. Hum Genet. 1988 Sep;80(1):59–62. doi: 10.1007/BF00451457. [DOI] [PubMed] [Google Scholar]
  24. Rowland L. P., Fetell M., Olarte M., Hays A., Singh N., Wanat F. E. Emery-Dreifuss muscular dystrophy. Ann Neurol. 1979 Feb;5(2):111–117. doi: 10.1002/ana.410050203. [DOI] [PubMed] [Google Scholar]
  25. Serratrice G., Pouget J. Maladie d'Emery-Dreifuss ou syndrome d'amyotrophie avec rétractions précoces et troubles secondaires de la conduction cardiaque d'hérédité variable. Rev Neurol (Paris) 1986;142(10):766–770. [PubMed] [Google Scholar]
  26. Takamoto K., Hirose K., Uono M., Nonaka I. A genetic variant of Emery-Dreifuss disease. Muscular dystrophy with humeropelvic distribution, early joint contracture, and permanent atrial paralysis. Arch Neurol. 1984 Dec;41(12):1292–1293. doi: 10.1001/archneur.1984.04050230078024. [DOI] [PubMed] [Google Scholar]
  27. Thomas N. S., Williams H., Elsas L. J., Hopkins L. C., Sarfarazi M., Harper P. S. Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. J Med Genet. 1986 Dec;23(6):596–598. doi: 10.1136/jmg.23.6.596. [DOI] [PMC free article] [PubMed] [Google Scholar]
  28. Thomas P. K., Calne D. B., Elliott C. F. X-linked scapuloperoneal syndrome. J Neurol Neurosurg Psychiatry. 1972 Apr;35(2):208–215. doi: 10.1136/jnnp.35.2.208. [DOI] [PMC free article] [PubMed] [Google Scholar]
  29. Thomas P. K., Schott G. D., Morgan-Hughes J. A. Adult onset scapuloperoneal myopathy. J Neurol Neurosurg Psychiatry. 1975 Oct;38(10):1008–1015. doi: 10.1136/jnnp.38.10.1008. [DOI] [PMC free article] [PubMed] [Google Scholar]
  30. Voit T., Krogmann O., Lenard H. G., Neuen-Jacob E., Wechsler W., Goebel H. H., Rahlf G., Lindinger A., Nienaber C. Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. Neuropediatrics. 1988 May;19(2):62–71. doi: 10.1055/s-2008-1052404. [DOI] [PubMed] [Google Scholar]
  31. Witt T. N., Garner C. G., Pongratz D., Baur X. Autosomal dominant Emery-Dreifuss syndrome: evidence of a neurogenic variant of the disease. Eur Arch Psychiatry Neurol Sci. 1988;237(4):230–236. doi: 10.1007/BF00449912. [DOI] [PubMed] [Google Scholar]
  32. Yates J. R., Affara N. A., Jamieson D. M., Ferguson-Smith M. A., Hausmanowa-Petrusewicz I., Zaremba J., Borkowska J., Johnston A. W., Kelly K. Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene. J Med Genet. 1986 Dec;23(6):587–590. doi: 10.1136/jmg.23.6.587. [DOI] [PMC free article] [PubMed] [Google Scholar]
  33. ul Hassan Z., Fastabend C. P., Mohanty P. K., Isaacs E. R. Atrioventricular block and supraventricular arrhythmias with X-linked muscular dystrophy. Circulation. 1979 Dec;60(6):1365–1369. doi: 10.1161/01.cir.60.6.1365. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES