Identifier |
20220216_nanos_mitochondrial1_03 |
Title |
Myopathies and Cerebral Dysfunction |
Creator |
Michio Hirano |
Affiliation |
Columbia University Irving Medical Center, New York, NY |
Subject |
Mitochondrial Disease; Exercise Intolerance; Chronic Progressive External Ophthalmoplegia; Ragged-red Fibers |
Description |
Mitochondrial dysfunction accounts for an ever-increasing number of ophthalmologic and neurologic disorders that frequently affect the central nervous system and skeletal muscle (encephalomyopathies). Of relevance to Neuro-ophthalmologists, these disorders often present with optic neuropathy, pigmentary retinopathy, macular pathology, ptosis, and chronic progressive external ophthalmoplegia, which can be clinical red-flags that may lead clinicians to suspect a mitochondrial disorder. Many mitochondrial disease patients present with classical mitochondrial disease syndromes such as Kearns-Sayre syndrome, Leber hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy lactic acidosis, and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF), and mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Nevertheless, many patients do not manifest a classical syndrome, but rather present with other disorders that range from monosymptomatic to multisystemic disorders. |
Date |
2022-02 |
Language |
eng |
Format |
application/pdf |
Format Creation |
Microsoft PowerPoint |
Type |
Text |
Source |
2022 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS Annual Meeting 2022: Mitochondrial Disorders: More Than the Optic Nerve |
Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
Publisher |
Spencer S. Eccles Health Sciences Library, University of Utah |
Holding Institution |
North American Neuro-Ophthalmology Association. NANOS Executive Office 5841 Cedar Lake Road, Suite 204, Minneapolis, MN 55416 |
Rights Management |
Copyright 2022. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6rk5y4c |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
2192071 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6rk5y4c |