Sleep Pattern in Charcot-Marie-Tooth Disease Type 2: Report of Family Case Series
| Autor: | Lidiane C. L. Santos, Camila Hirotsu, Iandra Maria Pinheiro de França Costa, Paula Santos Nunes, Catarina Andrade Garcez, Adriano Antunes, Eduardo Luis de Aquino Neves, Cynthia Coelho de Souza |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Pulmonary and Respiratory Medicine congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Polysomnography Sensory polyneuropathy Disorders of Excessive Somnolence Disease Severity of Illness Index Tooth disease stomatognathic system Charcot-Marie-Tooth Disease Surveys and Questionnaires medicine Humans Family Psychiatry Sleep disorder Sleep quality business.industry medicine.disease Scientific Investigations Sleep in non-human animals nervous system diseases Sleep patterns Neurology Apnea–hypopnea index Sleep Deprivation Female Neurology (clinical) Sleep business |
| Zdroj: | Journal of Clinical Sleep Medicine. 11:205-211 |
| ISSN: | 1550-9397 1550-9389 |
| DOI: | 10.5664/jcsm.4526 |
| Popis: | Charcot-Marie-Tooth (CMT) disease is the most prevalent hereditary motor and sensory polyneuropathy, and a condition in which sleep has rarely been studied, particularly in relation to the type 2 (CMT2). Thus, we aimed to characterize the sleep patterns of a family affected by CMT2 disease.Sixteen volunteers with CMT2 from the same multigenerational family agreed to participate in the study (refusal rate = 31%). All participants answered sleep questionnaires and came to the sleep laboratory to perform a diagnostic polysomnography (PSG). Clinical manifestation and severity of the disease were also evaluated.56% of the sample were male and 44% female, with a mean age of 32 ± 17 years, of normal weight (body mass index 21 ± 3 kg/m(2)); 64% presented moderate to severe CMT2. Regarding subjective sleep, 31% had excessive daytime sleepiness and 75% reported poor sleep quality. The PSG results revealed that CMT2 patients had an increase in stage N3 and a reduction in REM sleep, in addition to a high arousal index. Although 81% of the sample were snorers, only 13% had an apnea-hypopnea index (AHI)5. However, a positive correlation was found between the severity of disease and the AHI.Taken together, these data show that CMT2 disease is characterized by important changes in sleep architecture, probably due to sleep fragmentation. Although these alterations may worsen with disease severity, it seems that they are not related to sleep breathing or movement disorders. |
| Databáze: | OpenAIRE |
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