Navegando por Palavras-chave "doença de machado-joseph"

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    Mioclonia fragmentária excessiva na doença de machado-joseph
    (Universidade Federal de São Paulo (UNIFESP), 2014-02-26) Santos, Diogo Fernandes dos [UNIFESP]; Prado, Gilmar Fernandes Do Prado [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Introduction: Machado-Joseph disease (MJD) is a neurodegenerative disease which usually presents several clinical findings including cerebellar ataxia and other extracerebellar features, such as parkinsonism, dystonia, peripheral neuropathy, and lower motor neuron disease. Some data have demonstrated a high frequency of sleep disorders in these patients, including excessive daytime sleepiness (EDS), insomnia, obstructive sleep apnea (OSA), rapid eye movement (REM) sleep behavior disorder (RBD), and restless legs syndrome (RLS). Objective: This study aims to describe the high frequency of excessive fragmentary myoclonus (EFM) in MJD. Methods: We recruited 44 patients with MJD and 44 controls, matched for sex and age, without MJD. All participants underwent an all-night polysomnography (PSG). EFM was evaluated and defined in accordance to the criteria of the American Academy of Sleep Medicine (AASM). Results: Half of the MJD patients (n=22) had EFM diagnosed through PSG, jthough no healthy control participant presented this finding (P< 0.0001). In the MJD group, older participants and men had a higher frequency of EFM. There was no correlation between EFM and the following data: body mass index (BMI), apnea-hypopnea index (AHI), EDS, loss of atonia during REM sleep, periodic limb movements during sleep (PLMS), RLS, RBD, ataxia severity, the number of cytosine-adenine-guanine trinucleotide (CAG) repeats, disease duration, sleep efficiency, sleep fragmentation, and sleep stage percentages between patients with or without EFM. Conclusion: EFM is highly prevalent in patients with MJD. This study demonstrates that EFM must be included in the clinical spectrum of sleep disorders in MJD patients.
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    Parassonias do sono não-rem na doença de machado-joseph: avaliações clínica e polissonográfica
    (Universidade Federal de São Paulo (UNIFESP), 2014-08-31) Silva, Giselle Melo Fontes [UNIFESP]; Prado, Gilmar Fernandes Do Prado [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    Indroduction: The majority of spinocerebellar ataxias (SCA) are autosomal dominant neurodegenerative disorders that affect the cerebellum and its connections, and have a marked clinical and genetic variability. The spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is the most common worldwide. MJD is classically characterized by progressive ataxia and variable other motor and non-motor symptoms. Sleep disorders are common and include: REM sleep behavior disorder (RBD), restless legs syndrome (RLS), insomnia, excessive daytime sleepiness, excessive fragmentary myoclonus and sleep apnea. Objective: This study aims to characterize and to determinate the frequency of the NREM-related parasomnias and other sleep parameters and disorders in MJD patients compared to a control group. Materials and Methods: Forty-seven patients with clinical and genetic diagnosis of MJD and 47 control subjects were evaluated clinically and by polysomnography. Results: MJD patients had a higher frequency of arousals from slow wave sleep (p<0.001), parasomnias complaints (confusional arousal/sleep terrors p=0.001, RBD p<0.001 and nightmares p<0.001), REM sleep without atonia (p<0.001), periodic limb movements of sleep-PLMS index (p<0.001), duration and percentage of N3 sleep (p<0.001) and percentage of N1 sleep (p<0.001). However MJD patients had a lower duration of N2 sleep (p<0.001). Conclusion: These data expose that NREM-related parasomnias must be included in the spectrum of sleep disorders in MJD patients.