Erroneous diagnosis corrected after 28 years: Not spinal muscular atrophy with ophthalmoplegia but minicore myopathy

Archives of Neurology

Volumn 53, Issue 11, 1996, Pages 1194-1196

  Gordon, Paul H ^a   Hays, Arthur P ^a   Rowland, Lewis P ^a   Dickoff, David J ^b   Schotland, Donald L ^c   Rosenberg, Roger N ^d   Wolfe, David E ^b   Lange, Dole J ^a   Lovelace, Robert E ^a  

^a New York Presbyterian Hospital Columbia University Medical Center   (United States)

^b MOUNT SINAI MEDICAL CENTER   (United States)

^c HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DIAGNOSTIC ERROR; FEMALE; HUMAN; MUSCLE BIOPSY; MYOPATHY; OPHTHALMOPLEGIA; PRIORITY JOURNAL; SPINAL MUSCULAR ATROPHY;

EID: 0029798106     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.1996.00550110146028     Document Type: Article

References (23)

1. Rosenberg RN, Schotland DL, Lovelace RE, Rowland LP. Progressive ophthalmoplegia: report of cases. Arch Neurol. 1968;19:362-376.
2. Aberfeld DC, Namba T. Progressive ophthalmoplegia in Kugelberg-Welander disease. Arch Neurol. 1969;20:253-256.
3. Oubrovsky A, Taratuto AL, Martino R. Distal spinal muscular atrophy and ophthalmoparesis: a case with selective type 2 fiber hypotrophy. Arch Neurol. 1987; 38:594-596.
4. Patchter BR, Pearson J, Davidowitz J, et al. Congenital total external ophthalmoplegia associated with infantile spinal muscular atrophy: fine structure of extraocular muscle, Invest Ophthalmol. 1976;15:320-324.
5. Hamano K, Tsukamoto H, Yazawa T, Yoshimura M, Takita H. Infantile progressive spinal muscular atrophy with ophthalmoplegia and pyramidal symptoms. Pediatr Neurol. 1994;10:320-324.
6. Myrianthopoulos NC, Brown IA. A genetic study of progressive spinal muscular atrophy. Am J Human Genet. 1954;6:387-411.
7. Vanneste JAL, Stam FC. Autosomal dominant multicore disease. J Neurol Neurosurg Psychiatry. 1982;45:360-365.
8. Paljarvi L, Kalimo H, Lang H, Savontaus ML, Sonninen V. Minicore myopathy with dominant inheritance. J Neurol Sci. 1987;77:11-22.
9. Heffner R, Cohen M, Duftner P, Daigler G. Multicore disease in twins. J Neurol Neurosurg Psychiatry. 1976;36:602-606.
10. Ricoy JR, Cabello A, Goizueta F. Myopathy with multiple minicore: report of two siblings. J Neurol Sci. 1980;48:81-92.
11. Engel AG, Gomez MR, Groover RV. Multicore disease. Mayo Clin Proc. 1971; 46:666-681.
12. Schotland DL. An electron microscopic study of target fibers, target-like fibers and related abnormalities in Human muscle. J Neuropathol Exp Neurol. 1969; 28:214-228.
13. Van Wijngaarden GK, Bethiem J, Dingemans KP, Coers C, Telerman-Toppet N, Gerard JM. Familial focal loss of striations. J Neurol. 1977;216:163-172.
14. Swash M, Schwartz MS. Familial multicore disease with focal loss of cross-striations and ophthalmoplegia. J Neurol Neurosurg Psychiatry. 1983;46:175-182.
15. Martin JJ, Bruyiand M, Busch HFM, Farriaux JP, Krivosic I, Ceuterick C. Pleocore disease: multiminicore disease and focal loss of cross-striations. Acta Neuropathol. 1986;72:142-149.
16. Bender AN, Bender MB, Muscle fiber hypotrophy with intact neuromuscular junctions: a study of a patient with congenital neuromuscular disease and ophthalmoplegia. Neurology. 1977;27:206-212.
17. Bethiem J, Arts WF, Dingemans KP. Common origin of rods, cores, miniature cores, and focal loss of cross-striations. Neurology. 1978;35:555-566.
18. Sugie H. Hanson R, Rasmussen G, Verity MA. Congenital neuromuscular disease with type I fibre hypotrophy, ophthalmoplegia and myofibril degeneration. J Neurol Neurosurg Psychiatry. 1982;45:507-512.
19. Kim JJ, Armstrong DD, Fishman MA. Multicore myopathy, microcephaly, aganglionosis, and short stature. J Child Neurol. 1994;9:275-277.
20. Drachman DA. Ophthalmoplegia plus: the neurodegenerative disorders associated with progressive external ophthalmoplegia. Arch Neurol. 1968;18:654-674.
21. Rowland LP. Progressive external ophthalmoplegia and ocular myopathies. In: Rowland LP, Dimauro S, eds. Handbook of Clinical Neurology. New York, NY: Elsevier Science Inc; 1992;18:287-329.
22. Drachman DA, Wetzel N, Wasserman M, Naito H. Experimental denervation of ocular muscles: a critique of the concept of ocular myopathy. Arch Neurol. 1969;21:170-183.
23. Victor M, Hayes R, Adams RD. Ocuropharyngeal muscular dystrophy: a familial disease of late life characterized by dysphagia and progressive ptosis of the eyelids. N Engl J Med. 1962;267:1667-1672.