Diurnal variability in cranial dystonia

Psychopharmacology, 1996

The diurnal and weekly variability of tardive dyskinesia (TD) was assessed instrumentally by digital image processing. Weekly assessments were obtained in ten patients over a 6-week period. In six of the ten patients, assessments were obtained four times over a single 12-h period. Results indicate that TD movements measured by instrumental assessment vary from week to week and throughout the day. Factors that appear to have affected the variability were changes in medications and the time of day when the assessments were conducted.

Experimental Neurology, 2013

Watching the clock and hitting the snooze button: Introduction to the special issue on circadian rhythms and sleep in neurological disorders Alterations in daily rhythms of sleep and wakefulness and other circadian rhythms accompany many neurological and neurodegenerative disorders (Chokroverty, 2009; Gagnon et al., 2008), including Parkinson's disease and Huntington's disease, as reviewed by Videnovic and Morton, respectively, in this special issue. Disruptions in the normal timing of sleep and wake function are often the major cause of institutionalization of a patient with dementia, as family members are unable to monitor and care for loved ones on a round-the-clock basis (Pollak and Perlick, 1991). Because "sundowning syndrome," characterized by increased mental and physical agitation late in the day, is a significant problem for caregivers, this condition is an active area of research, as discussed by Bedrosian and Nelson in this issue. Accumulating evidence suggests that alterations in sleep and circadian rhythms are not merely inconvenient symptoms of neurological disorders, but may be factors contributing to the development and/or severity of the disorders and to overall health and quality of life. Indeed, disruptions of circadian rhythms, such as those induced by shift work, are well known to have deleterious effects such as increased risks of metabolic and cardiovascular diseases as well as stroke, cancer, and impaired cognition (

Parkinsonism & Related Disorders

Background: myoclonus-dystonia (M-D) due to a pathogenic variant of SGCE is an autosomal dominant inherited movement disorder. Apart from motor symptoms, psychiatric disorders are highly prevalent in patients with M-D. Previous studies suggest, but never tested directly, that the type of psychiatric disorder differs between dystonia syndromes, probably related to disease specific pathology. Little is known about other non-motor symptoms (NMS) in M-D. Here, we systematically study NMS in M-D in direct comparison to other types of dystonia and healthy controls. Methods: standardized questionnaires were used to assess type and severity of psychiatric comorbidity, sleep problems, fatigue and quality of life. Results of M-D patients with a pathogenic variant of SGCE were compared to results of idiopathic cervical dystonia (CD) patients, dopa-responsive dystonia (DRD) patients with a pathogenic variant of GCH1 and controls. Results: we included 164 participants: 41 M-D, 51 CD, 19 DRD patients, 53 controls. Dystonia patients (M-D, CD and DRD) had an increased prevalence of psychiatric disorders compared to controls (56-74% vs. 29%). In M-D we found a significantly increased prevalence of obsessive-compulsive disorder (OCD) and psychosis compared to CD and DRD. All dystonia patients had more sleep problems (49-68% vs. 36%) and fatigue (42-73% vs. 15%) than controls. Compared to other dystonia subtypes, M-D patients reported less excessive daytime sleepiness and fatigue. Conclusion: psychiatric comorbidity is frequent in all dystonia types, but OCD and psychosis are more common in M-D patients. Further research is necessary to elucidate underlying pathways.

Frontiers in Psychiatry

NATIONAL JOURNAL OF NEUROLOGY

Dystonia refers to an involuntary, repetitive, sustained, painful and twisting movements of the affected body part. This movement disorder was first described in 1911 by Hermain Oppenheim, and many studies have been conducted to understand the mechanism, the diagnosis and the treatment of dystonia ever since. However, there are still many unexplained aspects of this phenomenon. Dystonia is diagnosed by clinical manifestations, and various classifications are recommended for the diagnosis and the treatment. Anatomic classification, which is based on the muscle groups involved, is the most helpful classification model to plan the course of the treatment. Dystonias can also be classified based on the age of onset and the cause. These dystonic syndromes can be present without an identified etiology or they can be clinical manifestations of a neurodegenerative or neurometabolic disease. In this review we summarized the differential diagnosis, definition, classifications, possible mechani...

Biological Rhythm Research, 2003

Before a rehabilitation therapy, a variety of tests are used to investigate the sensorymotor system condition of the patient. Since some parameters evaluated by those tests exhibit temporal variations, this work was conducted to investigate the performance of healthy subjects at different times during the day in a visual-motor coordination test, consisting in perfectly drawing a diagonal in as many 1 ¥ 1 cm squares as possible during a 1 min interval. The test was applied to 14 diurnally active subjects (7 men and 7 women; 18-25 years old) in sessions at 3 h intervals from 06:00 to 00:00 h during four days divided in two blocks of two days each. Oral temperature was digitally measured before each test session in order to check the synchronization of the subjects. The results showed a significant difference (Anova, p < 0.001) between sexes with women (122.4 ± 16.4 sq/min; x ± SD) being faster than men (110.1 ± 22.8 sq/min), although daily profiles for both sexes were quite similar with better performances occurring between 09:00 and 15:00 h. Single Cosinor analysis detected significant circadian rhythmicity for 5 individuals (1 men and 4 women) with acrophases distributed between 09:15 and 13:03 h. The profiles for oral temperature and test performance were very similar with significant correlation (R = 0.26, p = 0.0002) only for men. The variation coefficient shows lower values at 15:00 h for both sexes, suggesting this time as the appropriate moment to apply the test.

Journal of Neurology Neurosurgery and Psychiatry, 2004

Objective: To compare clinical characteristics of the involuntary movements in primary and symptomatic dystonias.Patients and methods: 132 consecutive patients with the diagnosis of primary dystonia and 51 consecutive patients with secondary dystonia caused by well defined structural lesion(s) of the central nervous system, with particular emphasis on the characteristics of involuntary movements.Results: Eight variables with the highest risk contribution to

Frontiers in Neurology, 2021

Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal postures, repetitive movements, or both. Research in dystonia has been challenged by several factors. First, dystonia is uncommon. Dystonia is not a single disorder but a family of heterogenous disorders with varied clinical manifestations and different causes. The different subtypes may be seen by providers in different clinical specialties including neurology, ophthalmology, otolaryngology, and others. These issues have made it difficult for any single center to recruit large numbers of subjects with specific types of dystonia for research studies in a timely manner. The Dystonia Coalition is a consortium of investigators that was established to address these challenges. Since 2009, the Dystonia Coalition has encouraged collaboration by engaging 56 sites across North America, Europe, Asia, and Australia. Its emphasis on collaboration has facilitated establishment of inte...

Sleep, 2013

To assess the interindividual and intraindividual variability in the circadian rhythms of blind individuals with non-24-h disorder and to quantify the influence of environmental time cues in blind subjects lacking entrainment (non-24-h individuals or N-24s). Design: An observational study of 21 N-24s (11 females and 10 males, age 9-78 years) who kept a sleep/wake schedule of their choosing. Circadian phase was determined using the melatonin onset (MO) from plasma or saliva samples that were collected every 2 weeks. Melatonin concentrations were measured by radioimmunoassay. A total of 469 MO assessments were conducted over 5,536 days of study. The rate of drift of circadian phase was calculated using a series of MOs (total number of hours the MO drifted divided by the total number of days studied). Stability of the rest/activity rhythm was calculated using chi-squared periodogram analysis of wrist actigraphy data in 19 subjects. Setting: Academic medical center. Participants: Paid volunteers. Interventions: N/A. Measurements and Results: Subjects lacked entrainment such that circadian phase drifted an average (± standard deviation) of 0.39 ± 0.29 h later per day; however, there was notable intersubject and intrasubject variability in the rate of drift including relative coordination and periods of transient entrainment during which there was little to no drift in the circadian phase. A regular, reproducible, and significant oscillation in the rate of drift was detected in 14 of the 21 subjects. A significant non-24-h rest/activity rhythm was detected in 18 of 19 subjects. There was a strong correlation (r = 0.793, P = 0.0001) between the non-24-h rest/activity rhythm and the rate of drift of the circadian phase. Conclusions: Most N-24s are influenced by unidentified environmental time cues and the non-entrained biological clock in such N-24s is reflected in their rest/activity rhythms. These findings may have diagnostic and treatment implications: this disorder might be diagnosed with actigraphy alone, relative coordination and transient entrainment may result in misdiagnosis and responsiveness to environmental time cues may influence treatment success with oral melatonin.

The Medical journal of Malaysia, 1994

A 10-year-old girl presented with progressive dystonia with diurnal fluctuation. Response to low dose L-Dopa was dramatic and sustained with no complications. Recurrence of symptoms was observed on attempted withdrawal. Because of the dramatic response to therapy, dopa-responsive dystonia must be considered in the differential diagnosis of disorders presenting as gait disorders in childhood.