Hostname: page-component-745bb68f8f-mzp66 Total loading time: 0 Render date: 2025-01-23T20:50:43.074Z Has data issue: false hasContentIssue false
  • English
  • Français

Oculoskeletal Myopathy with Abnormal Mitochondria

Published online by Cambridge University Press:  18 September 2015

V. Bril ,
N. B. Rewcastle  and
J. Humphrey
V. Bril*
Affiliation:
Divisions of Neurology and Neuropathology, Toronto General Hospital, University of Toronto
N. B. Rewcastle
Affiliation:
Divisions of Neurology and Neuropathology, Toronto General Hospital, University of Toronto
J. Humphrey
Affiliation:
Divisions of Neurology and Neuropathology, Toronto General Hospital, University of Toronto
*
Eaton N11–211, Toronto General Hospital, Toronto, Ontario, Canada M5G 1L7
Rights & Permissions [Opens in a new window]

Abstract:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

A clinical, electrophysiological and pathological review of 14 patients having oculoskeletal myopathy with abnormal mitochondria was undertaken. These patients present with ophthalmoplegia, and mild skeletal muscle weakness. The clinical course is slowly progressive. Electromyographic examination shows myopathic changes. Serum enzymes are normal. The diagnosis is confirmed by skeletal muscle biopsy which shows abnormal mitochondria, including crystalloid inclusions on electron microscopy. These patients form a distinct clinical group in which the risk of sudden cardiac death is much less than it is in the Kearns-Sayre syndrome.

Type
Original Articles
Information
Canadian Journal of Neurological Sciences , Volume 11 , Issue 3 , August 1984 , pp. 390 - 394
Copyright
Copyright © Canadian Neurological Sciences Federation 1984

References

Berenberg, RA, Pellock, JM, DiMauro, S, Rowland, LP (1977) Lumping or splitting? “Ophthalmoplegia-Plus” or Kearns-Sayre Syndrome? Ann. Neurol., 1: 37–54.CrossRefGoogle ScholarPubMed
Hudgson, P, Bradley, WG, Kenkison, J (1972) Familial “mitochonrial” myopathy, a myopathy associated with disordered oxidative metabolism in muscle fibres. Part 1. Clinical, Electrophysiological and Pathological Findings. J. Neurol. Sci., 16: 343–370.CrossRefGoogle Scholar
Kamieniecka, Z (1976) Myopathies with abnormal mitochondria. Acta Neurol. Scand. 55: 57–75.CrossRefGoogle Scholar
Kamieniecka, Z, Schmalbruch, H (1976) Myopathies with abnormal mitochondria; A clinicopathologic classification. Muscle and Nerve 1:413–415.CrossRefGoogle Scholar
Kamieniecka, Z, Schmalbruch, H (1980) Neuromuscular disorders with abnormal muscle mitochondria. Int. Rev. of Cytol., 65: 321–357.CrossRefGoogle ScholarPubMed
Karpati, G (1979) Handbook Clinical Neurology. Ed. Vinken, P.J. & Bruyn, G.W.. Vol. 40, Diseases of Muscle pt. 1, Chapter 1.Google Scholar
Karpati, G, Carpenter, S, Larbrisseau, A, Lafontaine, R (1973) The Kearns-Shy Syndrome, A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin. J. Neurol. Sci. 19: 133–151.CrossRefGoogle ScholarPubMed
Kearns, TP, Sayre, GP (1958) Retinitis pigmentosa, external ophthalmoplegia, and complete heart block. Arch. Ophthal., 60: 280–289.CrossRefGoogle ScholarPubMed
Morgan-Hughes, JA, Mair, WGP (1973) Atypical muscle mitochondria in oculoskeletal myopathy. Brain, 96: 215–224.CrossRefGoogle ScholarPubMed
Olson, W, Engel, , King, W, Walsh, GO, Einaugler, R (1972) Oculocraniosomatic neuromuscular disease with “ragged-red” fibres. Arch. Neurol. 26: 193–211.CrossRefGoogle Scholar
Schneck, L, Adachi, M, Briet, P, Wolintz, A, Volk, BW (1973) Ophthalmoplegia plus with morphological and chemical studies of cerebellar and muscle tissue. J. Neurol. Sci., 19: 37–44.CrossRefGoogle ScholarPubMed
Tamura, K, Santa, T, Kuroiwa, Y (1974) Familial oculocranioskeletal neuromuscular disease with abnormal muscle mitochondria. Brain, 97: 665–672.CrossRefGoogle ScholarPubMed
Victor, M, Hayes, R, Adams, RD (1962) Oculopharyngeal muscular dystrophy. A familial disease of late life characterised by dysphagia and progressive ptosis of eyelids. New Eng. J. Med., 267: 1267.CrossRefGoogle Scholar