Document Detail

Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases.
MedLine Citation:
PMID:  23182644     Owner:  NLM     Status:  MEDLINE    
Fatigue and exercise intolerance are common symptoms of mitochondrial diseases, but difficult to be clinically assessed. New methods to quantify these rather common complaints are strongly needed in the clinical practice. Coenzyme Q10 administration and aerobic exercise may improve exercise intolerance, but more definite studies are still pending. Herein, we have revised "how to measure" and "how to treat" these symptoms of mitochondrial patients. Subsequently, we reviewed the clinical data of the 1164 confirmed mitochondrial patients present in the Italian nation-wide database of mitochondrial disease, with special regard to exercise intolerance. We observed that more of 20% of mitochondrial patients complain of exercise intolerance. This symptom seems to be frequently associated with specific patient groups and/or genotypes. Ragged red fibers and COX-negative fibers are more often present in subjects with exercise intolerance, whereas lactate levels could not predict this symptom. Multicenter efforts are strongly needed for rare disorders such as mitochondrial diseases, and may represent the basis for more rigorous longitudinal studies.
M Mancuso; C Angelini; E Bertini; V Carelli; G P Comi; C Minetti; M Moggio; T Mongini; S Servidei; P Tonin; A Toscano; G Uziel; M Zeviani; G Siciliano;
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  22 Suppl 3     ISSN:  1873-2364     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-27     Completed Date:  2013-03-12     Revised Date:  2014-03-19    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  S226-9     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Elsevier B.V. All rights reserved.
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MeSH Terms
Exercise / physiology*
Fatigue* / diagnosis,  genetics
Mitochondrial Diseases* / diagnosis,  genetics
Mutation / genetics
Ubiquinone / analogs & derivatives,  metabolism
Grant Support
GGP07019//Telethon; GPP10005//Telethon; GUP09004//Telethon
Reg. No./Substance:
1339-63-5/Ubiquinone; 303-98-0/coenzyme Q10
C Bruno / ; M Filosto / ; C Lamperti / ; D Martinelli / ; I Moroni / ; O Musumeci / ; D Orsucci / ; E Pegoraro / ; F M Santorelli / ; M Scarpelli / ; M Sciacco / ; M Spinazzi / ; M L Valentino / ; L Vercelli /

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