RESUMO
Isolated REM sleep behaviour disorder (iRBD) is a predictive marker of prodromal Lewy body disease. iRBD prevalence in the general population is around 1%, but it remains under-diagnosed, even though symptoms are alleviated by medication. We developed a population screening strategy and identified 16 iRBD patients by conducting telephone interviews and polysomnography examinations. We compared our population-screened cohort with sleep-center referred patients and found higher MoCA scores and lower MDS-UPDRS-III scores in our patients. In conclusion, screening can be used to identify iRBD patients in a cost-effective manner with the benefit of identifying patients at a very early disease stage.
Assuntos
Doença por Corpos de Lewy/diagnóstico , Doença de Parkinson/diagnóstico , Transtorno do Comportamento do Sono REM/diagnóstico , Idoso , Estudos de Coortes , Dinamarca , Feminino , Humanos , Doença por Corpos de Lewy/complicações , Masculino , Programas de Rastreamento , Pessoa de Meia-Idade , Doença de Parkinson/complicações , Polissonografia , Transtorno do Comportamento do Sono REM/etiologia , Índice de Gravidade de Doença , TelefoneRESUMO
Neurogenic autonomic dysfunction (NAD) is underdiagnosed, and it is likely in patients, who have orthostatic hypotension and symptoms from multiple organ systems as well as abnormal results from a neurological examination. A clinical and neurophysiological examination of the autonomic nervous system combined with a standardised paraclinical evaluation should be performed. NAD may be present in neurodegenerative disorders, vitamin deficiency, toxicity, infection, and in paraneoplastic, metabolic, hereditary and immune-mediated conditions.
Assuntos
Doenças do Sistema Nervoso Autônomo , Adulto , Algoritmos , Doenças do Sistema Nervoso Autônomo/complicações , Doenças do Sistema Nervoso Autônomo/diagnóstico , Doenças do Sistema Nervoso Autônomo/etiologia , Doenças do Sistema Nervoso Autônomo/terapia , Humanos , Hipotensão Ortostática/etiologia , Sistema Nervoso Parassimpático/anatomia & histologia , Sistema Nervoso Simpático/anatomia & histologiaRESUMO
Neurogenic autonomic dysfunction (NAD) and polyneuropathy occur in common conditions like diabetes and alcoholism. However, it can also be seen in rare diseases like in this case report of amyloid light-chain amyloidosis: primary amyloidosis. A 56-year-old man presented with polyneuropathy, a sympathetic dysfunction causing orthostatic intolerance, syncope, parasympathetic dysfunction and involvement of the enteric nervous system. The report illustrates, that routine screening can be insufficient in diagnosing amyloidosis. NAD and polyneuropathy without clear aetiology may require a multidisciplinary elucidation of more rare diseases.