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Dystonia is characterized by the presence of involuntary muscle contractions that cause abnormal movements and posture. Adult onset focal dystonia include cervical dystonia, blepharospasm, arm dystonia and laryngeal dystonia. Besides motor manifestations, patients with focal dystonia frequently also display non-motor signs and symptoms. In this paper, we review the evidence of sensory and psychiatric disturbances in adult patients with focal dystonia. Clinical studies and neurophysiological investigations consistently show that the sensory system is involved in dystonia. Several studies have also demonstrated that neuropsychiatric disorders, particularly depression and anxiety, are more frequent in patients with focal dystonia, whereas data on obsessive compulsive disorders are more contrasting.
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PMID:Non-motor symptoms in patients with adult-onset focal dystonia: Sensory and psychiatric disturbances. 2636 Feb 38

Botulinum neurotoxins (BoNTs) are used to achieve therapeutic benefit in focal dystonia. An expert panel recently reviewed published evidence on the efficacy of BoNTs for the treatment of focal dystonias and produced recommendations for clinical practice. Another panel reviewed the clinimetric properties of rating scales for dystonia and produced recommendations for current usage and future directions. Considering that the strength of evidence derives not only from the quality of the study design, but also from usage of validated outcome measures, we combined the information provided by these two recent reviews and assessed the appropriateness of the rating instruments used in clinical trials on BoNT treatment in focal dystonia. Data sources included all the publications on BoNT treatment for focal dystonias reviewed by the recent evidence-based analysis. We reviewed all rating instruments used to assess primary and secondary outcome following BoNT treatment. The publications were allocated into five topics according to the focal dystonia type reviewed in the meta-analysis: blepharospasm, oromandibular dystonia, cervical dystonia, upper limb dystonia, and laryngeal dystonia. For each topic, papers were divided, according to the terminology used in the meta-analysis, into placebo-controlled, active comparator and methodological or uncontrolled. For each topic we identified the rating tools used in each study class and annotated which were the mostly used in each focal dystonia type. Outcome measures included tools related to motor and non-motor features, such as pain and depression, and functional as well as health-related quality of life features. Patient- and investigator-reported outcomes were also included. Rating instruments were classified as recommended, suggested, listed or not included, based on recommendations produced by the rating scale task force. Both primary and secondary outcome measures were assessed. As a final step we compared current practice, as summarized by the meta-analysis, with the recommendations of the rating scales panel. For blepharospasm, three placebo-controlled trials used suggested scales, one active-comparator study used a recommended scale and three active-comparator studies used suggested scales. For oromandibular dystonia, one placebo-controlled study used a suggested scale. For cervical dystonia, six placebo-controlled trials used a recommended scale, four active-comparator trials used a recommended scale and one active-comparator study used a suggested scale. For upper limb and laryngeal dystonia, no trial used validated instruments. Appropriately designed studies should be based on recommended rating instruments. Therapeutic trials not using clinimetrically tested rating measures do not provide sufficient information on efficacy of BoNT treatment, even if the study design is robust. Further research is needed to develop and validate new tools to assess all types of focal dystonia and to apply them in prospective placebo-controlled clinical trials.
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PMID:Botulinum neurotoxins for the treatment of focal dystonias: Review of rating tools used in clinical trials. 2636 17

Blepharospasm (BSP) has a morbidity of 16 to 133 per million and is characterized by orbicularis oculi spasms. BSP can severely impact daily life. However, to date, its pathophysiology has not been clearly demonstrated. Near-infrared spectroscopy (NIRS) is a portable, non-invasive, and high time resolution apparatus used to measure cerebral blood flow. This study aimed to investigate the hemodynamic response patterns of BSP patients and determine whether BSP alone can be an attributional factor to influence the function of the prefrontal area using a verbal fluency task (VFT) and NIRS. Twenty-three BSP patients (10 males and 13 females) and 13 healthy controls (HC; five males and eight females) matched by gender and education were examined using NIRS. BSP patients were divided into two groups based on the presence or absence of depression and anxiety symptoms. A covariance analysis was conducted to analyze differences between the three groups and reduce the influence of different ages and educational levels. Bonferroni was used to process the post hoc test. The bilateral orbitofrontal area (ch36, 39, and 41; P<0.01) exhibited a lower activation in BSP patients without psychiatric symptoms compared with HC. This study is the first report to identify the prefrontal function in BSP using NIRS. Our findings indicate that BSP alone may cause a hypoactive hemodynamic performance in the prefrontal cortex in the absence of psychiatric symptoms. These findings provide evidence to support novel pathophysiological mechanisms of BSP.
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PMID:Prefrontal Hemodynamic Functions during a Verbal Fluency Task in Blepharospasm Using Multi-Channel NIRS. 2694 79

Objectives Although primary dystonia is typically characterized as a movement disorder, it is also associated with cognitive alterations in the domain of executive functioning which may arise from changes in cortico-basal ganglia circuits. Specifically, in comparison to healthy controls, patients with dystonia show deficits in neuropsychological tests of cognitive flexibility. However, it is unclear whether cognitive inflexibility is caused by the pathomechanisms underlying primary dystonia or by confounding factors such as depression or symptom-related distraction.Methods The present study aimed to eliminate these confounds by examining cognitive flexibility in dystonia patients and in patients with similar motor symptoms but without a comparable central pathophysiology. Eighteen patients with primary blepharospasm, a common form of dystonia affecting the muscles around the eyes, and 19 patients with hemifacial spasm, a facial nerve disorder causing similar eyelid spasms, completed a computerized version of the Wisconsin Card Sorting Test (cWCST). The two groups were further compared on tests of global cognitive functioning, psychiatric symptoms, health status, and impulsiveness. Results Blepharospasm patients committed significantly more errors on the cWCST than patients with hemifacial spasm. Group differences were most pronounced with regard to integration errors, a measure of rule-inference processes on the cWCST. Integration errors were also associated with impulsiveness in patients with blepharospasm. Conclusions Primary blepharospasm is related to deficits in cognitive flexibility, even when blepharospasm patients are compared with patients who suffer from motor symptoms of non-dystonic origin. Our results support the possibility that cognitive inflexibility results from the specific pathophysiological processes underlying primary dystonia. (JINS, 2016, 22, 662-670).
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PMID:Cognitive Flexibility in Primary Dystonia. 2733 37

Functional movement disorders (FMDs) affecting the eyelids, tongue, and other facial muscles are often underrecognized because their phenomenology has not been fully characterized. Nevertheless, these disorders are more common than previously thought. In this chapter we will discuss the phenomenology as well as the clinical and instrumental diagnosis of facial FMDs. Facial FMDs should be considered when a patient exhibits any combination of the following features: (1) fixed unilateral facial contractions, especially with lower lip, with or without ipsilateral jaw involvement, of maximal severity at onset; (2) inconsistent features such as changes in side and pattern during or between examination; (3) associated somatoform or nonphysiologic sensory or motor findings; (4) reduction or abolition of facial spasm with distraction; (5) response to suggestion or psychotherapy; (6) rapid onset and/or spontaneous remissions; and (7) normal neurologic examination. Supportive features are young age, female gender, and associated medical conditions such as depression, headaches, facial pain, fibromyalgia, or irritable-bowel syndrome. Finally, the differential diagnosis with the organic counterparts will be also addressed, particularly with respect to blepharospasm, oromandibular dystonia, and hemifacial spasm.
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PMID:Functional facial and tongue movement disorders. 2771 55

Mood, anxiety, and other psychological symptoms are common in dystonic patients suffering from blepharospasm (BSP) and spasmodic torticollis (ST). Since sexual well-being is an important aspect of mental health, here, we investigated whether these patients may also experience a worsening of their sexual life. In particular, quality of sexual life was evaluated in patients suffering from BSP (N = 30), ST (N = 30), and in a control group of patient with Hemifacial spasm (HFS; N = 30), undergoing botulinum toxin type A therapy. A group of 30 age-matched healthy volunteers constituted an additional control group. Patients were evaluated just before the periodic injection of botulinum toxin. Sexual functioning was assessed using the Sexual Functioning Inventory, a reduced form of the Golombok Rust Inventory, previously employed in patients with Parkinson's disease. Depression (Beck Depression Inventory) and anxiety (STAI-X1/X2) were also assessed. Results revealed that sexual functioning was significantly affected in patients with BSP, ST, and HFS with respect to healthy controls. Dystonic patients manifested more sexual dysfunction than patients with HFS. Overall, females had a poorer quality of sexual life than males and, among females, women with BSP were the most dysfunctional. Psychological symptoms were present in patients with dystonia, but not in patients with HFS. As discussed in the paper, several factors might be taken into account to explain worse quality of sexual life in patients with dystonia compared to patients with hemifacial spasm. Among them an important role might be played by the central origin of dystonia pathophysiology (i.e., altered activity of cortico-striato-thalamic-cortical circuits). Future investigations are necessary to further explore these preliminary findings, considering that this is the first time that sexual well-being is evaluated in patients with BSP, ST, and HFS, and comparable data are not available.
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PMID:Sexual Well-Being in Patients with Blepharospasm, Spasmodic Torticollis, and Hemifacial Spasm: A Pilot Study. 2776 Nov 18

Depression is the most important nonmotor symptom in blepharospasm (BL). As facial expression influences emotional perception, summarized as the facial feedback hypothesis, we investigated if patients report fewer depressive symptoms if injections of botulinum neurotoxin (BoNT) include the "grief muscles" of the glabellar region, compared to treatment of orbicularis oculi muscles alone. Ninety BL patients were included, half of whom had BoNT treatment including the frown lines. While treatment pattern did not predict depressive symptoms overall, subgroup analysis revealed that in male BL patients, BoNT injections into the frown lines were associated with remarkably less depressive symptoms. We hypothesize that in BL patients presenting with dystonia of the eyebrow region, BoNT therapy should include frown line application whenever justified, to optimize nonmotor effects of BoNT denervation.
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PMID:Depression in blepharospasm: a question of facial feedback? 2876 48

Introduction: This paper reviews studies that have assessed the treatment of psychiatric disturbances in dystonia, tic disorders, Tourette syndrome, Huntington's disease, and essential tremor. Areas covered: We searched for papers in English in Pubmed using the following keywords: blepharospasm, cervical dystonia, arm dystonia, laryngeal dystonia, spasmodic dysphonia, tic disorders, Tourette syndrome, Huntington's chorea, essential tremor, depression, anxiety, obsessive compulsive disorders, attention deficit hyperactivity disorders, psychosis, apathy. Expert commentary: Although psychiatric disturbances are frequent in hyperkinetic movement disorders, few controlled studies have assessed the treatment of psychiatric disturbances in such disorders. In dystonia, none of the controlled studies conducted to date have demonstrated the efficacy of drug treatment for depression or anxiety. In TS, controlled studies have demonstrated the usefulness of drug treatment on obsessive compulsive disorders and attention deficit hyperactivity disorders. Behavioral interventions may also play a role. No controlled studies have been conducted on HD nor have any studies addressed the treatment of psychiatric disturbances in ET. We conclude that there is the need of controlled studies to better evaluate pharmacological and non-pharmacological treatment of psychiatric disturbances in hyperkinetic movement disorders.
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PMID:Treatment of psychiatric disturbances in common hyperkinetic movement disorders. 3050 39

Blinking sustains the corneal tear film generated by sexually dimorphic lacrimal and meibomian glands. Our study examines whether trigeminal control of blinking is also sexually dimorphic by investigating trigeminal reflex blinking, associative blink modification, and spontaneous blinking in male and female rats before and after unilateral dry eye caused by exorbital gland removal. Before gland removal, female rats exhibited a lower threshold for evoking trigeminal reflex blinks, a weaker effect of associative blink modification, and longer-duration spontaneous blinks than males. Spontaneous blink rate, reflex blink excitability, and occurrence of blink oscillations did not differ between the sexes. Reanalysis of previous data showed that humans showed the same blink sexual dimorphisms as rats. During the first 2 wk of dry eye, trigeminal blink circuit excitability and blink oscillations steadily rose in male rats, whereas excitability and blink oscillations did not change in females. Following dry eye, spontaneous blink duration increased for both males and females, whereas spontaneous blink rate remained constant for males but decreased for females. The associative modification treatment to depress trigeminal blink amplitude initially produced blink depression in males that converted to blink potentiation as trigeminal excitability rose, whereas females exhibited progressively more blink depression. These data indicated that dry eye increased excitability in male trigeminal reflex blink circuits at the expense of circuit modifiability, whereas trigeminal modifiability increased in females. This increased modifiability of female trigeminal blink circuits with dry eye may contribute to the preponderance of females developing the focal dystonia, benign essential blepharospasm.NEW & NOTEWORTHY All the elements controlling the corneal tear film are sexually dimorphic. Blinking, which smooths and maintains the tear film, also exhibits sex differences. Dry eye increases the sexual dimorphisms of blinking, including increased exaggeration of excitability in males and enhanced modifiability of the female trigeminal complex. This increased modifiability may explain female predominance in the development of the focal dystonia, benign essential blepharospasm.
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PMID:Sex, blinking, and dry eye. 3194 Feb 43


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