Sleep Disorders in Four Patients With Myotonic Dystrophy Type 1
| Autor: | Takehiro Hayashi, Nagisa Takamori, Masayuki Nakamura, Motofumi Kasugai, Nari Shiokawa, Yuka Urata, Takanori Ishizuka, Aiko Yasuniwa, Akira Sano, Kensuke Imamura |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
musculoskeletal diseases
0301 basic medicine congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Cataplexy sleep-onset rapid eye movement periods Rapid eye movement sleep Excessive daytime sleepiness Case Report Myotonic dystrophy lcsh:RC346-429 03 medical and health sciences 0302 clinical medicine medicine Restless legs syndrome Cognitive decline myotonic dystrophy type 1 lcsh:Neurology. Diseases of the nervous system Sleep disorder business.industry excessive daytime sleepiness medicine.disease 030104 developmental biology orexin Neurology Neurology (clinical) medicine.symptom frontal lobe dysfunction business 030217 neurology & neurosurgery Narcolepsy |
| Zdroj: | Frontiers in Neurology Frontiers in Neurology, Vol 11 (2020) |
| ISSN: | 1664-2295 |
| DOI: | 10.3389/fneur.2020.00012 |
| Popis: | Sleep disturbances such as excessive daytime sleepiness, central and obstructive sleep apneas, restless legs syndrome, and rapid eye movement sleep dysregulation are prominent in patients with myotonic dystrophy type 1 (DM1). Mild intellectual deficits presented in many patients with DM1. In addition, psychosocial issues caused by neuropsychiatric symptoms are a clinical problem. We herein present the cases of four DM1 patients with sleep disturbances and neuropsychiatric symptoms in the preceding stage of clinically significant muscle symptoms. One of the cases exhibited a sleep disorder and neuropsychiatric symptoms before electromyography showed myotonic discharge, suggesting that careful follow-up is also important. Patients 1 and 2 were first referred to our department due to daytime sleepiness. Patients 3 and 4 were objectively suffering from daytime sleepiness of which they were not subjectively aware of. Patients 1, 3, and 4 obtained high apnea–hypopnea index (AHI) scores, which reflected central and/or obstructive apnea, whereas patient 2 had an AHI score of zero. The daytime cerebrospinal fluid (CSF) orexin levels of all patients ranged from the normal lower limit to low, although they were not as low as those observed in narcolepsy with typical cataplexy. Neuropsychological tests of patients 1 and 2 showed frontal lobe dysfunction. Patients 3 and 4 were diagnosed with mild intellectual disability and autism spectrum disorder, respectively. All patients exhibited indifference toward their own symptoms, which may have resulted from the cognitive decline caused by DM1. Based on family history and/or neurological findings such as myotonia, we suspected DM1 as the cause of their sleep disturbances. Molecular analysis using the triplet repeat-primed polymerase chain reaction (TP PCR) method and Southern blotting, which provided a genetic confirmation of the diagnosis of DM1, were performed. These clinical features of sleep disturbances were unrelated to the length of CTG repeats and are caused by unknown molecular mechanisms. Clinicians should take into account that multisystem involvement in DM1 is hugely variable, and thus, a disabling sleep disorder could overshadow muscle impairment in DM1 patients. |
| Databáze: | OpenAIRE |
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