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Movement disorders
Published in Henry J. Woodford, Essential Geriatrics, 2022
Around 25% of people with parkinsonism will have a small response to levodopa. This medication should not be continued in the absence of a continued benefit. Benzodiazepines may help reduce myoclonus but with a risk of adverse effects. Botulinum toxin injections may be useful for focal dystonia.
A trip up the garden path
Published in Margaret Walshe, Nick Miller, Clinical Cases in Dysarthria, 2021
A comparable picture materialised when listening for resonance changes. People with AOS may produce what sounds like nasal/oral substitutions – /mʊk/ for /bʊk/, ‘nine’ as /daɪd/, /daɪnd/ or /ndaɪd/. No such instances happened. Instead, similar to how range (previous paragraph) difficulty seemed to be then not be a problem, hypernasal speech occurred for a phrase (or few), but then was fine again. Such performance is inconsistent with AOS and most dysarthria manifestations. Dystonia may sometimes produce such transitory disruptions, but no other signs or symptoms pointed to dystonia.
Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
In isolated dystonia, the only symptom or sign of neurological involvement is dystonia. Many of the causes of focal or segmental dystonia are idiopathic, but some may be attributed to genetic disorders. A valuable starting point in the assessment of dystonia is brain imaging with magnetic resonance imaging (MRI), which is normal in the majority of the isolated idiopathic dystonia syndromes and abnormal in many examples of combined dystonia due to secondary structural or specific genetic syndromes. In well-defined dystonic syndromes, the yield of genetic diagnosis is moderate to high.
An overview of the pharmacotherapeutics for dystonia: advances over the past decade
Published in Expert Opinion on Pharmacotherapy, 2022
O. Abu-hadid, J. Jimenez-Shahed
Three main concepts are thought to underlie the pathogenesis of dystonia: (I) loss of inhibition, (II) sensory abnormalities, and (III) maladaptive neuroplasticity [9]. It is increasingly recognized as a network disorder involving a complex interplay between cortical, basal ganglia, thalamic, brainstem, and cerebellar nodes [10]. An expanding recognition of dystonia genetics has led researchers to develop various animal models of this heterogeneous disorder, which may facilitate discovery of novel treatments [11]. In addition, a number of pathogenesis-targeted therapies are now available for treatment of metabolic disorders with combined dystonia, with which dystonia features will also improve [8,12]. Examples include Wilson’s disease, glucose transporter type 1 deficiency, and DOPA-responsive dystonia (DRD), amongst others. This review will describe the results of case reports, case series, case-control studies and double-blinded randomized placebo-controlled trials (DB-RCT) published over the last decade from January 2012 to April 2022 related to pharmacologic treatments of the motor features of primary isolated dystonia.
Suicidal ideation, hopelessness, and affective temperament in patients with blepharospasm
Published in International Journal of Psychiatry in Clinical Practice, 2021
Isabella Berardelli, Gina Ferrazzano, Daniele Belvisi, Viola Baione, Giovanni Fabbrini, Marco Innamorati, Alfredo Berardelli, Maurizio Pompili
We consecutively enrolled 70 patients affected by BSP (M/F: 23/47; mean age: 66.3 ± 10.6 years) diagnosed according to published validated diagnostic criteria (Defazio et al. 2013). All were patients at the Department of Human Neurosciences outpatient clinic of movement disorders at Sapienza University of Rome from September 2017 to July 2018. No patient was excluded from the study. The control group included 80 subjects (M/F: 34/46; mean age: 64.3 ± 10.2 years) who were recruited from an advertisement posted on a bulletin board at the Department of Human Neurosciences, Sapienza University of Rome from November 2017 to July 2018. The control group was unselected in terms of exposure of interest. Neurological diseases were excluded in all control subjects. All patients underwent a neuroimaging study of the brain to exclude brain lesions as a cause of BSP. Other possible causes of secondary dystonia (e.g., parkinsonian syndromes) were excluded. No patient reported prior use of dopamine receptor blocking drugs and only two patients had taken benzodiazepines before enrolment. Neither BSP patients nor control subjects took any drugs that could have induced psychiatric disorders.
Clinical Presentation of Spasticity and Passive Range of Motion Deviations in Dyskinetic Cerebral Palsy in Relation to Dystonia, Choreoathetosis, and Functional Classification Systems
Published in Developmental Neurorehabilitation, 2021
Saranda Bekteshi, Inti Vanmechelen, Marco Konings, Els Ortibus, Hilde Feys, Elegast Monbaliu
The current study found fair and significant correlations for spasticity and moderate to good/excellent and significant correlations for dystonia when correlated to the GMFCS and the MACS levels. This may indicate that spasticity has a negative impact on the functional abilities, but perhaps to a lesser extent than dystonia.6 Previous research suggests that the severity of dystonia may be such that any features of coexisting spasticity may be overlooked.8 When treatment focuses on reducing severe dystonia, an adverse effect could include worsening of choreoathetosis, which indicates that dystonia may prevent the full expression of choreoathetosis.2 Thus similarly, it may be that if treatment focuses on reducing severe dystonia while coexisting spasticity is left untreated, spasticity may surface and have a larger negative impact on function. The obtained insights in the current study on the presence, severity, and the distribution of dystonia, choreoathetosis, spasticity, and pROM deviations in DCP are clinically important to inform treatment management and ensure better clinical outcomes. Future research exploring more in-depth the clinical implications of this coexistence are recommended.