Sleep-disordered breathing in adult patients with mitochondrial diseases


Guido Primiano, Valerio Brunetti, Catello Vollono, Anna Losurdo, Rossana Moroni, Giacomo Della Marca, Serenella Servidei


To describe the prevalence and characteristics of sleep-disordered breathing (SDB) in a large cohort of patients with genetically confirmed mitochondrial diseases.


This is a prospective observational study performed at the Neurophysiopatology Unit of Fondazione Policlinico Universitario A. Gemelli IRCCS. All subjects had a defined mitochondrial disease and were investigated by full night polysomnography.


103 consecutive patients were enrolled. SDB was demonstrated in 49 patients (47.6%). Regarding phenotypes, we found differences in distribution between the groups: patients affected by PEO with single or multiple mtDNA deletions frequently had obstructive apneas (50% and 43.8%) or REM-related hypoventilation when associated with m.3243A>G mutations (75%). Furthermore, a high percentage of subjects with MIDD and MERRF syndromes were characterized respectively by obstructive sleep apnea and REM-related hypoventilation. Differently from what is previously reported, central sleep apnea was rarely reported in our cohort.


SDB has a higher prevalence in MDs compared to general population-based data. Overall, these results suggest that patients characterized by a specific phenotype-genotype combination are most at risk of developing a specific subgroup of SDB. The early identification of this disorder is crucial in the management of these fragile patients.

Published: 6 October 2020
Journal: Neurology


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