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Case 55 - Mitochondrial Myopathies: Chronic Progressive External Ophthalmoplegia (CPEO)

from Myopathies

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk ,
Marianne de Visser ,
Pieter A. van Doorn  and
Erik H. Niks
Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

A 52-year-old woman visited the neurologist because of drooping eyelids, which had not changed much over the past 10 years. She felt socially disabled because of the constant need to tilt her head upwards. Old photographs showed slight drooping from her mid-teens onwards. At one point she had experienced transient double vision. Speaking, swallowing, and limb muscle strength were reportedly normal. The family history was negative.

Keywords

mitochondrial myopathieschronic progressive external ophthalmoplegiaCPEOexternal ophtalmoparesisragged red fibresCOX-negative fibresPOLG
Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
 , pp. 230 - 233
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

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