Sleep Disorders in Machado–Joseph Disease: Frequency, Discriminative Thresholds, Predictive Values, and Correlation with Ataxia-Related Motor and Non-Motor Features

Abstract

Sleep disorders are common complaints in patients with neurodegenerative diseases such as spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD)--SCA3/MJD. We evaluated the frequency of sleep disorders in SCA3/MJD patients against controls matched by age and gender, and correlated data with demographic and clinical variables. The main sleep disorders evaluated were rapid eye movement (REM) sleep behavior disorder (RBD), restless leg syndrome (RLS), and excessive daytime sleepiness (EDS). We recruited 40 patients with clinical and molecular-proven SCA3/MJD and 38 controls. We used the following clinical scales to evaluate our primary outcome measures: RBD Screening Questionnaire, International RLS Rating Scale, and Epworth Sleepiness Scale. To evaluate ataxia-related motor and non-motor features, we applied the International Cooperative Ataxia Rating Scale, the Scale for the Assessment and Rating of Ataxia, and the Unified Parkinson's Disease Rating Scale part III. Psychiatric manifestations were tested with the Hamilton Anxiety Scale, and Beck Depression Inventory. The frequency of RBD and RLS were significantly higher in the SCA3/MJD group than in the control group (p < 0.001). There was no difference between both groups with regard to EDS. The accuracy of RDBSQ to discriminate between cases and controls was considered the best area under the ROC curve (0.86). Within-SCA3/MJD group analysis showed that anxiety and depression were significantly correlated with RDB, but not with RLS. Additionally, depression was considered the best predictive clinical feature for RDB and EDS.

Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function

“…Interestingly, higher risk of falls was not evidenced in SCA6 patients, probably because they present a pure presentation with late onset of symptoms. It must be borne in mind that each SCA type has different neurological signs and symptoms associated with ataxiafor instance, neuropathy and ophthalmoparesis in SCA2 and SCA3, pyramidal signs in SCA1, and dystonia, and other extrapyramidal signs in SCA3 [19][20][21][22] . Therefore, we hypothesized that there will be differences in balance impairment and ability to function in different SCA types.…”

Qualidade de vida em pacientes com doença de Machado-Joseph sob acompanhamento fonoaudiológico para disfagia

“…The dominion sleep presented worsening for patient 03 and patient 04. However, it is known that sleeping disorders are commonly reported by patients with neurodegenerative diseases, especially by patients with MJD 21 .…”

Machado-Joseph Disease in the context of the person/family that experiences it: daily changes and future expectations Doença de Machado-Joseph no contexto da pessoa/família que a vivencia: alterações cotidianas e expectativas futuras

“…2 In addition, psychiatric disorders, sleep dysfunction and olfactory disorders, as well as cramps, fatigue and myalgia can occur. [16][17] Even with the signs and symptoms, the diagnosis of MJD is still difficult for professionals because, although there is an increase in the genetic findings with greater ease for the tests, it is still difficult to carry out a definitive diagnostic approach for neurological and hereditary diseases. 18 This data is in line with those of the present study, which evidenced the difficulty experienced by the participants until the diagnosis of MJD.…”