Sleep-disordered breathing in adult patients with mitochondrial diseases

Type of publication:


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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