Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Autosomal Dominant Humeroperoneal Myopathy

Autosomal Dominant Humeroperoneal Myopathy Abstract • Emery-Dreifuss muscular dystrophy is a syndrome with five salient features: (1) early and unusual contractures; (2) humeroperoneal muscle wasting; (3) the slow progression of weakness, beginning in childhood; (4) cardiac conduction defects; and (5) X-linked inheritance. We present two cases and detail other reports with a similar constellation of findings with apparent autosomal dominant inheritance. We postulate separate genetic disorders with similar phenotypic expression. References 1. Dreifuss FE, Hogan G: Survival in X-chromosomal muscular dystrophy . Neurology 1961;11:734-737.Crossref 2. Emery AE, Dreifuss FE: Unusual type of benign X-linked muscular dystrophy . J Neurol Neurosurg Psychiatry 1966;29:338-342.Crossref 3. Hopkins LC, Jackson JA, Elsas LJ: Emery-Dreifuss humeroperoneal muscular dystrophy: An X-linked myopathy with unusual contractures and bradycardia . Ann Neurol 1981;10:230-237.Crossref 4. Rowland LP, Feteu M, Olarte M, et al: Emery-Dreifuss muscular dystrophy . Ann Neurol 1979;5:111-117.Crossref 5. Stalberg E, Trontelj JV: Single Fiber Electromyography . Old Woking, England, Mirvalle Press Ltd, 1979. 6. Chakrabarti A, Pearce JMS: Scapuloperoneal syndrome with cardiomyopathy: Report of a family with autosomal dominant inheritance and unusual features . J Neurol Neurosurg Psychiatry 1981;44:1146-1152.Crossref 7. Fenichel G, Sul YC, Kilroy AW, et al: An autosomal dominant dystrophy with humeropelvic distribution and cardiomyopathy . Neurology 1982;32:1399-1401.Crossref 8. Hauptmann A, Tannhauser SJ: Muscular shortening and dystrophy . Arch Neurol 1941;46:654-666.Crossref 9. Sood SC, Goyal BG: An unusual form of progressive muscular dystrophy . Indian J Pediatr 1969;36:219-223.Crossref 10. Fowler WM, Nayak NN: Slowly progressive proximal weakness: Limb-girdle syndromes . Arch Phys Med Rehabil 1983;64:527-538. 11. Rowland LP, Layzer RB: X-linked muscular dystrophies , in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology . Amsterdam, Elsevier North Holland Inc, 1979, vol 40, chap 9. 12. Vogel P, Goebel HH, Seitz D: Rigid spine syndrome in a girl . J Neurol 1982;228:259-265.Crossref 13. Waters DD, Nutter DO, Hopkins LC, et al: Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease . N Engl J Med 1975;293:1017-1022.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Autosomal Dominant Humeroperoneal Myopathy

Loading next page...
 
/lp/american-medical-association/autosomal-dominant-humeroperoneal-myopathy-H0OsSgArOI
Publisher
American Medical Association
Copyright
Copyright © 1986 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1986.00520070088026
Publisher site
See Article on Publisher Site

Abstract

Abstract • Emery-Dreifuss muscular dystrophy is a syndrome with five salient features: (1) early and unusual contractures; (2) humeroperoneal muscle wasting; (3) the slow progression of weakness, beginning in childhood; (4) cardiac conduction defects; and (5) X-linked inheritance. We present two cases and detail other reports with a similar constellation of findings with apparent autosomal dominant inheritance. We postulate separate genetic disorders with similar phenotypic expression. References 1. Dreifuss FE, Hogan G: Survival in X-chromosomal muscular dystrophy . Neurology 1961;11:734-737.Crossref 2. Emery AE, Dreifuss FE: Unusual type of benign X-linked muscular dystrophy . J Neurol Neurosurg Psychiatry 1966;29:338-342.Crossref 3. Hopkins LC, Jackson JA, Elsas LJ: Emery-Dreifuss humeroperoneal muscular dystrophy: An X-linked myopathy with unusual contractures and bradycardia . Ann Neurol 1981;10:230-237.Crossref 4. Rowland LP, Feteu M, Olarte M, et al: Emery-Dreifuss muscular dystrophy . Ann Neurol 1979;5:111-117.Crossref 5. Stalberg E, Trontelj JV: Single Fiber Electromyography . Old Woking, England, Mirvalle Press Ltd, 1979. 6. Chakrabarti A, Pearce JMS: Scapuloperoneal syndrome with cardiomyopathy: Report of a family with autosomal dominant inheritance and unusual features . J Neurol Neurosurg Psychiatry 1981;44:1146-1152.Crossref 7. Fenichel G, Sul YC, Kilroy AW, et al: An autosomal dominant dystrophy with humeropelvic distribution and cardiomyopathy . Neurology 1982;32:1399-1401.Crossref 8. Hauptmann A, Tannhauser SJ: Muscular shortening and dystrophy . Arch Neurol 1941;46:654-666.Crossref 9. Sood SC, Goyal BG: An unusual form of progressive muscular dystrophy . Indian J Pediatr 1969;36:219-223.Crossref 10. Fowler WM, Nayak NN: Slowly progressive proximal weakness: Limb-girdle syndromes . Arch Phys Med Rehabil 1983;64:527-538. 11. Rowland LP, Layzer RB: X-linked muscular dystrophies , in Vinken PJ, Bruyn GW (eds): Handbook of Clinical Neurology . Amsterdam, Elsevier North Holland Inc, 1979, vol 40, chap 9. 12. Vogel P, Goebel HH, Seitz D: Rigid spine syndrome in a girl . J Neurol 1982;228:259-265.Crossref 13. Waters DD, Nutter DO, Hopkins LC, et al: Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease . N Engl J Med 1975;293:1017-1022.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Jul 1, 1986

References