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Abstract
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.
Glossary
- AHI=
- apnea-hypopnea index;
- CSA=
- central sleep apnea;
- MD=
- mitochondrial disease;
- MELAS=
- mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes;
- MERRF=
- myoclonic epilepsy with ragged-red fibers;
- MIDD=
- maternally inherited diabetes and deafness;
- MNGIE=
- mitochondrial neurogastrointestinal encephalomyopathy;
- OSA=
- obstructive sleep apnea;
- PEO=
- progressive external ophthalmoplegia;
- PSG=
- polysomnography;
- SDB=
- sleep-disordered breathing
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
CME Course: NPub.org/cmelist
- Received February 12, 2020.
- Accepted in final form August 25, 2020.
- © 2020 American Academy of Neurology
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- Author Response: Sleep-disordered breathing in adult patients with mitochondrial diseases: A cohort study
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