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We aim to summarize the sleep disorders reported in patients affected by primary mitochondrial dysfunctions and describe the association with their clinical and molecular characteristics. Sleep complaints are prevalent in mitochondrial disorders. Sleep-disordered breathing is the main sleep disorder reported in mitochondrial diseases. OSA and CSA are, respectively, more frequently associated with patients characterized by the prevalent involvement of the skeletal muscle and the predominant involvement of the central nervous system. Other sleep disorders, such as restless legs syndrome, have been rarely described. Sleep disorders are frequently associated with primary mitochondrial disorders, and the clinical phenotypes affect the type of sleep disturbance associated with the mitochondrial dysfunction. A polysomnographic study should be performed in every subject with this neurogenetic disorder both at diagnosis and during follow-up for the numerous adverse clinical outcomes associated with sleep disorders and the frailty of mitochondrial patients.


Valerio Brunetti, Giacomo Della Marca, Serenella Servidei, Guido Primiano. Sleep Disorders in Mitochondrial Diseases. Current neurology and neuroscience reports. 2021 May 05;21(7):30

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PMID: 33948737

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