Sleep-Disordered Breathing in Adult Patients With Mitochondrial Diseases: A Cohort Study

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

1 Citazioni (Scopus)


OBJECTIVE: To describe the prevalence and characteristics of sleep-disordered breathing (SDB) in a large cohort of patients with genetically confirmed mitochondrial diseases. METHODS: This is a prospective observational study performed at the Neurophysiopatology Unit of Fondazione Policlinico Universitario A. Gemelli IRCCS. All participants had a defined mitochondrial disease and were investigated by full-night polysomnography. RESULTS: One hundred three 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 progressive external ophthalmoplegia 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 participants with maternally inherited diabetes and deafness and myoclonic epilepsy with ragged-red fibers syndromes were characterized by obstructive sleep apnea and REM-related hypoventilation, respectively. In contrast to what has been described in previous studies, central sleep apnea was rarely reported in our cohort. CONCLUSIONS: SDB has a higher prevalence in mitochondrial diseases 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.
Lingua originaleEnglish
pagine (da-a)e241-e249
Numero di pagine8
Stato di pubblicazionePubblicato - 2021


  • Cohort Studies
  • Cross-Sectional Studies
  • Mitochondrial Diseases
  • Polysomnography
  • Prospective Studies
  • Sleep Apnea Syndromes


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