Emery-Dreifuss muscular dystrophy in the evaluation of decreased spinal mobility and joint contractures

Clinical Rheumatology

Volumn 22, Issue 6, 2003, Pages 456-460

  Goncu, Kamil ^a   Guzel, Rengin ^a   Guler Uysal, Fusun ^a  

^a CUKUROVA UNIVERSITY FACULTY OF MEDICINE   (Turkey)

Author keywords

Contracture; Emery Dreifuss; Muscular dystrophy; Spondyloarthropathies

Indexed keywords

ADOLESCENT; ADULT; ANKYLOSING SPONDYLITIS; ARTICLE; CASE REPORT; DIFFERENTIAL DIAGNOSIS; EMERY DREIFUSS MUSCULAR DYSTROPHY; FEMALE; HEART DISEASE; HUMAN; JOINT CONTRACTURE; JOINT LIMITATION; MALE; MEDICAL PROFESSION; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; PHYSICAL MEDICINE; PRIORITY JOURNAL; RHEUMATOLOGY; SPINE MOBILITY; SPONDYLOARTHROPATHY; ARTIFICIAL HEART PACEMAKER; CONTRACTURE; DISEASE COURSE; ELBOW; EPIDEMIOLOGY; HEART ARRHYTHMIA; HOSPITALIZATION; JOINT CHARACTERISTICS AND FUNCTIONS; PATHOPHYSIOLOGY; PHYSIOLOGY; PROGNOSIS; RISK ASSESSMENT; SPINE;

ADOLESCENT; ADULT; ARRHYTHMIA; CONTRACTURE; DISEASE PROGRESSION; ELBOW JOINT; FEMALE; HUMANS; MALE; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; PACEMAKER, ARTIFICIAL; PROGNOSIS; RANGE OF MOTION, ARTICULAR; RISK ASSESSMENT; SAMPLING STUDIES; SEVERITY OF ILLNESS INDEX; SPINE;

EID: 2342454596     PISSN: 07703198     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10067-003-0771-9     Document Type: Article

References (22)

1. Emery AEH (1989) Emery-Dreifuss syndrome. J Med Genet 26:637-641
2. Kanadasi M, Demirtas M, Guzel R, San M, Tuncer I (2002) Cardiomyopathy and atrioventricular block in Emery-Dreifuss muscular dystrophy. A case report. Angiology 53:109-112
3. Yates JRW (1997) Emery-Dreifuss muscular dystrophy. In: Emery AEH, ed. Diagnostic criteria for neuromuscular disorders. London,: Royal Society of Medicine Press, 5-8
4. Orstavik KH, Kloster R, Lippestad C, Rode L, Hovig T, Fuglseth KN (1990) Emery-Dreifuss syndrome in three generations of females, including identical twins. Clin Genet 38:447-451
5. Deymeer F, Öge AE, Bayindir Ç et al. (1993) Emery-Dreifuss muscular dystrophy with unusual features. Muscle Nerve 16:1359-1365
6. Spranger M, Spranger S, Ziegan J, Lossner J, Meinck HM (1996) Three familial cases presenting with an immobile spine. Rigid spine or Emery-Dreifuss syndrome? Clin Genet 50:229-231
7. Buckley AE, Dean J, Mahy I (1999) Cardiac involvement in Emery-Dreifuss muscular dystrophy: a case series. Heart 82:105-108
8. Emery AEH (1989). Emery-Dreifuss muscular dystrophy and other related disorders. Br Med Bull 45:772-787
9. Voit T, Krogmann O, Lenard HG, Neven-Jacob E, Wechsler W, Goebel HH (1988) Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. Neuropediatrics 19:62-71
10. Yoshioka M, Saida K, Itagaki Y, Kamiya T (1989) Follow up study of cardiac involvement in Emery-Dreifuss muscular dystrophy. Arch Dis Child 64:713-715
11. Shapiro F, Specht L (1991) Orthopedic deformities in Emery-Dreifuss muscular dystrophy. J Pediatr Orthop 11:336-340
12. Gilchrist JM, Leshner RT (1986) Autosomal dominant humeroperoneal myopathy. Arch Neurol 43:734-735
13. Bialer MG, McDaniel NL, Kelly TE (1991) Progression of cardiac disease in Emery-Dreifuss muscular dystrophy. Clin Cardiol 14:411-416
14. Merchut MP, Zdonczyk D, Gujrati M (1990) Cardiac transplantation in female Emery-Dreifuss muscular dystrophy. J Neurol 237:316-319
15. Fishbein MC, Siegel RJ, Thompson CE, Hopkins LC (1993) Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. Ann Intern Med 119:900-905
16. Dickey RP, Ziter FA, Smith RA (1984) Emery-Dreifuss muscular dystrophy. J Pediatr 104:555-559
17. Tanaka K, Yoshimura Y, Muratani H, Kira J, Itoyama Y, Goto I (1989) Familial myopathy with scapulohumeral distribution, rigid spine, cardiopathy and mitochondrial abnormality J Neurol 236:52-54
18. Isozaki E, Fujimoto Y, Kawata A, Matsubara S, Hirai S (1996) Clinical and myopathological studies on rigid spine syndrome. Rinsho Shinkeigaku 36:1136-1142
19. Rowland LP, Fetell M, Olarte M et al. (1979) Emery-Dreifuss muscular dystrophy. Ann Neurol 5:111
20. Goto I, Ishimoto S, Yamada T et al. (1983) The rigid spine syndrome and Emery Dreifuss muscular dystrophy. Clin Neurol Neurosurg 88:293
21. Miller RG, Layzer RB, Mellenthin MA, Golabi M, Francoz RA, Mall JC (1985) Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. Neurology 35:1230-1233
22. Raffaele di Barletta M, Ricci E, Galluzzi G et al. (2000) Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 66:1407-1412