External ophthalmoplegia in neuromuscular disorders: Case report and review of the literature

Neuromuscular Disorders

Volumn 7, Issue 3, 1997, Pages 143-151

  Jones, Kristi J ^a   North, Kathryn N ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

External ophthalmoplegia; Extraocular muscles; Myopathy; Neuromuscular disorder

Indexed keywords

ALGORITHM; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; EXTERNAL OPHTHALMOPLEGIA; EXTRAOCULAR MUSCLE; HEART MUSCLE; HUMAN; INFANT; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; NEUROMUSCULAR DISEASE; NEWBORN; PRIORITY JOURNAL; REVIEW; SKELETAL MUSCLE;

BIOPSY; CHILD; DECISION TREES; DIAGNOSIS, DIFFERENTIAL; HUMANS; MALE; MITOCHONDRIAL MYOPATHIES; MYASTHENIA GRAVIS; MYOTONIC DYSTROPHY; NEUROMUSCULAR DISEASES; OPHTHALMOPLEGIA;

EID: 0030969219     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00447-1     Document Type: Review

References (34)

1. Porter JD, Baker RS. Muscles of a different color: The unusual properties of the extraocular muscles may predispose or protect them in neurogenic and myogenic disease. Neurology 1996;46:30-7.
2. North KN, Specht LA, Sethi RK, Shapiro F, Beggs AH. Congenital muscular dystrophy associated with Merosin deficiency. J Child Neurol 1996;11:291-5.
3. Engel AG, Franzini-Armstrong C, editors. In: Myology. New York: McGraw-Hill, 1994:1147, 1198, 1482-532, 1769-835.
4. Dubowitz V. Muscle Disorders in Childhood. London: WB Saunders, 1995:398-421, 142-63.
5. Aslanidis C, Jansen G, Amemiya C, et al. Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 1992;355:548-51.
6. Fujita IT, Koyanagi, Kukita J, et al. Moebius syndrome with central hypoventilation and brainstem calcification: A case report. Eur J Pediatr 1991;150:582-3.
7. Govaert PP, Vanhaesebrouck P, de Praeter C, Frankel U, Leroy J. Moebius sequence and prenatal brainstem ischemia. Pediatrics 1989; 84:570-3.
8. Sudarshan A, Goldie WD. The spectrum of congenital facial diplegia (Moebius syndrome). Pediatr Neurol 1985;l:180-4.
9. Slee JJ, Smart RD, Viljoen DL. Deletion of chromosome 13 in Moebius syndrome. J Med Genet 1991;28:413-4.
10. Ziter FA, Wiser WC, Robinson A. Three-generation pedigree of a moebius syndrome variant with chromosome translocation. Arch Neurol 1977;34:437-42.
11. Kremer H, Kuyt LP, van den Helm B, et al. Localisation of a gene for Moebius syndrome to chromosome 3q by linkage analysis in a Dutch family. Hum Mol Genet 1996;5:1367-71.
12. [ 12] Carey JC, Fineman RM, Ziter FA. The Robin sequence as a consequence of malformation, dysplasia and neuromuscular syndromes. J Pediatr 1982;101:858-68.
13. Wishnick MM, Nelson L, Reich EW, Hubbard L. Moebius syndrome with dominant inheritance (Abstract). Am J Hum Genet 1981;33: 96A.
14. Sprofkin BE, Hillman JW. Moebius syndrome-congenital oculofacial paralysis. Neurology 1956;6:50-4.
15. McQuillen MP. Familial limb-girdle myasthenia. Brain 1966;89: 121-32.
16. Lai MM, Tettenborn MA, Hall JG, Smith LJ, Berry AC. A new form of autosomal dominant arthrogryposis. J Med Genet 1991 ;28: 701-3.
17. Rotig A, Bessis J, Romero N, et al. Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus and cerebellar ataxia. Am J Hum Genet 1992; 50:364-70.
18. Sugie H, Hanson R, Rasmussen G, Anthony Verity M. Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration. J Neurol Neurosurg Psychiatry 1982; 45:507-12.
19. Bender A, Bender M. Muscle fibre hypotrophy with intact neuromuscular junctions. Neurologhy (Minneap) 1977;27:206-12.
20. Riggs JE, Schochet SS, Goldfarb GR, Price RA. Congenital myopathy with external ophthalmoplegia. J Child Neurol 1989;4:195-7.
21. Chanmugan D, Haerer AF. Progressive external ophthalmoplegia of early onset followed by generalized myopathy in a Ceylonese family. 1 Neurol Sci 1970; 10:101-5.
22. Mathew NT, Jacob JC, Chandy J. Familial ocular myopathy with curare sensitivity. Arch Neurol 1970;22:68-74.
23. Satayoshi E, Kinoshita M. Oculopharyngodistal myopathy: report of four families. Arch Neurol 1977;34:89-92.
24. Engle EC. The genetics of strabismus: Duane, Möbius, and Fibrosis syndromes. In: Traboulsi E, editor. Genetic Diseases of the Eye: a Textbook and Atlas. New York: Oxford University Press, (in press): 26-33.
25. Engle EC, Kunkel LM, Specht LA, Beggs AH. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nature Genet 1994;7:69-73.
26. Pfaffenbach D, Cross H, Kearns TP. Congenital anomalies in Duane's retraction syndrome. Arch Ophthalmol 1972;88:635.
27. Frydman M, Cohen HA, Karmon G, Savir H. Autosomal recessive blepharophimosis, ptosis, V-esotropia, syndactyly and short stature. Clin Genet 1992;41:57-61.
28. Nishi Y, Hamamoto K, Kawamura I. The Perrault syndrome : clinical report and review. Am J Med Genet 1988;31:623-9.
29. Arias S, Penchaszadeh VB, Pinto-Cisternas J, Larrauri S. The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment internal ophthalmoplegia, and thrombocytopenia. Am J Med Genet 1980;6:25-9.
30. Heckmatt JZ, Sewry CA, Hodes D, Dubowitz V. Congenital centro-nuclear (myotubular) myopathy: a clinical, pathological and genetic study in eight children. Brain 1985;108:941-64.
31. Lapone J, Hu L, Kretz C, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nature Genet 1996;13:175-82.
32. van der Ven PF, Jap PH, Wetzels RH, et al. Postnatal centralization of muscle fibre nuclei in centronuclear myopathy. Neuromusc Disord 1991;1:211-20.
33. Harley HG, Rundle SA, Reardon W, et al. Unstable DNA sequence in myotonic dystrophy. Lancet 1992;339:1125-8.
34. Stabile M, Cavaliere ML, Scarano G, Fels A, Valiani R, Ventruto V. Abnormal B.E.A.P. in a family with Moebius syndrome:evidence for a supranuclear lesion. Clin Genet 1984;25:459-63.