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<p>The syndrome of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is one of the most frequent maternally inherited mitochondrial disorders, and presents numerous clinical manifestations such us stroke-like episodes, dementia, epilepsy, myopathy, headaches, hearing impairment or diabetes. Little attention has been paid to the possible influence of sleep disorders on this pathology. We conducted subjective and objective assessments of sleep in patients with MELAS syndrome, focusing on sleep-disordered breathing and REM sleep behavior disorder (RBD). We obtained a total of 7 cases with a complete analyzable nocturnal PSG study and expanded the study by reviewing the PSGs performed on patients with MELAS-type mitochondrial disease in recent years, reaching a total of 18 cases. Results showed the presence of obstructive sleep apnea (OSA) in 83% of cases, along with parameters that indicated poor sleep quality in these patients. We did not observe any cases of RBD or central apnea (CSA). In conclusion, this work reinforces the need for evaluation of patients with mitochondrial disease by a sleep specialist, as well as carrying out studies aimed at diagnosing possible sleep disorders, which could modify the treatment and quality of life of these subjects.</p>

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Sleep in MELAS syndrome

  • 期刊论文

  • 发表日期：

    2026年2月13日

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  • Alejandro Herrero San Martin,
  • Eva María Arias,
  • Cristina Dominguez Gonzalez,
  • Montserrat Morales Conejo,
  • Trinidad Diaz Cambriles

摘要

The syndrome of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is one of the most frequent maternally inherited mitochondrial disorders, and presents numerous clinical manifestations such us stroke-like episodes, dementia, epilepsy, myopathy, headaches, hearing impairment or diabetes. Little attention has been paid to the possible influence of sleep disorders on this pathology. We conducted subjective and objective assessments of sleep in patients with MELAS syndrome, focusing on sleep-disordered breathing and REM sleep behavior disorder (RBD). We obtained a total of 7 cases with a complete analyzable nocturnal PSG study and expanded the study by reviewing the PSGs performed on patients with MELAS-type mitochondrial disease in recent years, reaching a total of 18 cases. Results showed the presence of obstructive sleep apnea (OSA) in 83% of cases, along with parameters that indicated poor sleep quality in these patients. We did not observe any cases of RBD or central apnea (CSA). In conclusion, this work reinforces the need for evaluation of patients with mitochondrial disease by a sleep specialist, as well as carrying out studies aimed at diagnosing possible sleep disorders, which could modify the treatment and quality of life of these subjects.