Movatterモバイル変換


[0]ホーム

URL:


Skip to main content

Advertisement

Springer Nature Link
Log in

A 25-Year-Old Woman with Droopy Eyelids and Double Vision

  • Chapter
  • First Online:
  • 1143Accesses

Abstract

Mitochondrial myopathy is caused by mutations in nuclear or mitochondrial genes with resultant defects in the mitochondrial oxidative phosphorylation function. Patients with mitochondrial myopathy usually present with chronic progressive bilateral eyelid ptosis and ophthalmoplegia. They may also manifest fixed proximal limb weakness, cardiac conduction block, cardiomyopathy, hearing loss, retinopathy, and diabetes mellitus, among others. Here we present a case of mitochondrial myopathy with clinical, pathological, and genetic features consistent with Kearns-Sayre syndrome.

This is a preview of subscription content,log in via an institution to check access.

Access this chapter

Subscribe and save

Springer+ Basic
¥17,985 /Month
  • Get 10 units per month
  • Download Article/Chapter or eBook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Chapter
JPY 3498
Price includes VAT (Japan)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
JPY 7435
Price includes VAT (Japan)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
JPY 9294
Price includes VAT (Japan)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide -see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Similar content being viewed by others

References

  1. Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, et al. Mitochondrial diseases. Nat Rev Dis Primers. 2016;2:16080.

    Article  Google Scholar 

  2. Ahmed ST, Craven L, Russell OM, Turnbull DM, Vincent AE. Diagnosis and treatment of mitochondrial myopathies. Neurotherapeutics. 2018;15(4):943–53.

    Article  Google Scholar 

  3. Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, et al. Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol. 2015;262(5):1301–9.

    Article CAS  Google Scholar 

  4. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, et al. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015;17(9):689–701.

    Article CAS  Google Scholar 

  5. Bourgeois JM, Tarnopolsky MA. Pathology of skeletal muscle in mitochondrial disorders. Mitochondrion. 2004;4(5–6):441–52.

    Article CAS  Google Scholar 

  6. Dubowitz V, Sewry C, Oldfors A. Metabolic myopathies II: lipid-related disorders and mitochondrial myopathies. In: Muscle biopsy: a practical approach. 4th ed. Saunders Elsevier; 2013. p. 446–84.

    Google Scholar 

  7. Engel WK, Cunningham GG. Rapid examination of muscle tissue. An improved trichrome method for Fresh-Frozen biopsy sections. Neurology. 1963;13:919–23.

    Article CAS  Google Scholar 

  8. Vogel H. Mitochondrial myopathies and the role of the pathologist in the molecular era. J Neuropathol Exp Neurol. 2001;60(3):217–27.

    Article CAS  Google Scholar 

  9. Eppenberger-Eberhardt M, Riesinger I, Messerli M, Schwarb P, Muller M, Eppenberger HM, et al. Adult rat cardiomyocytes cultured in creatine-deficient medium display large mitochondria with paracrystalline inclusions, enriched for creatine kinase. J Cell Biol. 1991;113(2):289–302.

    Article CAS  Google Scholar 

  10. Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet. 1990;46:428–33.

    CAS PubMed PubMed Central  Google Scholar 

  11. Cao Z, Wanagat J, McKiernan SH, Aiken JM. Mitochondrial DNA deletion mutations are concomitant with ragged red regions of individual, aged muscle fibers: analysis by laser-capture microdissection. Nucleic Acids Res. 2001;29(21):4502–8.

    Article CAS  Google Scholar 

  12. Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology. 2002;59(9):1406–11.

    Article CAS  Google Scholar 

  13. Morgello S, Wolfe D, Godfrey E, Feinstein R, Tagliati M, Simpson DM. Mitochondrial abnormalities in human immunodeficiency virus-associated myopathy. Acta Neuropathol. 1995;90(4):366–74.

    Article CAS  Google Scholar 

  14. Rifai Z, Welle S, Kamp C, Thornton CA. Ragged red fibers in normal aging and inflammatory myopathy. Ann Neurol. 1995;37(1):24–9.

    Article CAS  Google Scholar 

  15. Woo M, Chung SJ, Nonaka I. Perifascicular atrophic fibers in childhood dermatomyositis with particular reference to mitochondrial changes. J Neurol Sci. 1988;88(1–3):133–43.

    Article CAS  Google Scholar 

  16. Cejudo P, Bautista J, Montemayor T, Villagomez R, Jimenez L, Ortega F, et al. Exercise training in mitochondrial myopathy: a randomized controlled trial. Muscle Nerve. 2005;32(3):342–50.

    Article  Google Scholar 

  17. Jeppesen TD, Duno M, Schwartz M, Krag T, Rafiq J, Wibrand F, et al. Short- and long-term effects of endurance training in patients with mitochondrial myopathy. Eur J Neurol. 2009;16(12):1336–9.

    Article CAS  Google Scholar 

  18. Jeppesen TD, Schwartz M, Olsen DB, Wibrand F, Krag T, Duno M, et al. Aerobic training is safe and improves exercise capacity in patients with mitochondrial myopathy. Brain. 2006;129(Pt 12):3402–12.

    Article  Google Scholar 

  19. Taivassalo T, Gardner JL, Taylor RW, Schaefer AM, Newman J, Barron MJ, et al. Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. Brain. 2006;129(Pt 12):3391–401.

    Article  Google Scholar 

  20. Taivassalo T, Shoubridge EA, Chen J, Kennaway NG, DiMauro S, Arnold DL, et al. Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects. Ann Neurol. 2001;50(2):133–41.

    Article CAS  Google Scholar 

  21. Glover EI, Martin J, Maher A, Thornhill RE, Moran GR, Tarnopolsky MA. A randomized trial of coenzyme Q10 in mitochondrial disorders. Muscle Nerve. 2010;42(5):739–48.

    Article CAS  Google Scholar 

  22. Rodriguez MC, MacDonald JR, Mahoney DJ, Parise G, Beal MF, Tarnopolsky MA. Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders. Muscle Nerve. 2007;35(2):235–42.

    Article CAS  Google Scholar 

  23. Tarnopolsky MA, Roy BD, MacDonald JR. A randomized, controlled trial of creatine monohydrate in patients with mitochondrial cytopathies. Muscle Nerve. 1997;20(12):1502–9.

    Article CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA

    Lan Zhou

  2. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Chunyu Cai

Authors
  1. Lan Zhou
  2. Chunyu Cai

Corresponding author

Correspondence toLan Zhou.

Editor information

Editors and Affiliations

  1. Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA

    Lan Zhou

  2. Department of Pathology, Neuropathology Section, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Dennis K. Burns

  3. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA

    Chunyu Cai

Rights and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Zhou, L., Cai, C. (2020). A 25-Year-Old Woman with Droopy Eyelids and Double Vision. In: Zhou, L., Burns, D., Cai, C. (eds) A Case-Based Guide to Neuromuscular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-25682-1_15

Download citation

Publish with us

Access this chapter

Subscribe and save

Springer+ Basic
¥17,985 /Month
  • Get 10 units per month
  • Download Article/Chapter or eBook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Chapter
JPY 3498
Price includes VAT (Japan)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
JPY 7435
Price includes VAT (Japan)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
JPY 9294
Price includes VAT (Japan)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide -see info

Tax calculation will be finalised at checkout

Purchases are for personal use only


[8]ページ先頭

©2009-2025 Movatter.jp