4,466 research outputs found
Cranial movement disorders: clinical features, pathophysiology, differential diagnosis and treatment
No full textCranial movement disorders are a common neurological problem. These disorders can be limited to the cranial muscles alone or manifest as part of a more generalized movement disorder. Cranial movement disorders can originate from the highest (motor cortex) to the lowest (cranial nerve and muscle) levels of the motor system. Owing to the lack of diagnostic tests and biomarkers for these disorders, their differential diagnosis can be difficult even for the experienced neurologist. Advances have, however, been made in the identification and treatment of these conditions, and most can be managed effectively with appropriate knowledge of the diagnostic signs and effective treatments. Here, we review the clinical features, pathophysiologies and therapies of the main movement disorders that affect the face, jaw, tongue and palate.Giovanni Fabbrini, Giovanni Defazio, Carlo Colosimo, Philip D. Thompson and Alfredo Berardell
The epidemiology of primary dystonia: current evidence and perspectives
No full textThe number of existing cases of primary dystonia in the population is not precisely known, but the condition is probably much more frequent than reported. By minimum prevalence estimates, primary dystonia should be considered the third most frequent movement disorders after essential tremor and Parkinson's disease. The most likely etiologic scenario suggested by epidemiological data is that primary dystonias are products of a genetic background and an environmental insult. Current information on the causation of primary dystonia, late-onset dystonia in particular, is often unreliable because of methodological problems inherent to case-control investigation and to the heterogeneity of dystonia. To expand our knowledge on dystonia, we need to design population-based studies, to perform association studies taking into account the heterogeneity of dystonia, and to collect exhaustive clinical data in a standardized and reliable way
The natural history of treated PD in an incident, community-based cohort: does the future begin?
No full textFacial bradykinesia
No full textThe aim of this paper is to summarise the main clinical and pathophysiological features of facial bradykinesia in Parkinson's disease (PD) and in atypical parkinsonism. Clinical observation suggests that reduced spontaneous and emotional facial expressions are features of facial bradykinesia in PD and atypical parkinsonism. In atypical parkinsonism, facial bradykinesia is complicated by additional dystonic features. Experimental studies evaluating spontaneous and emotional facial movements demonstrate that PD is characterised by a reduction in spontaneous blinking and emotional facial expression. In PD, neurophysiological studies show that voluntary orofacial movements are smaller in amplitude and slower in velocity. In contrast, movements of the upper face (eg, voluntary blinking) are normal in terms of velocity and amplitude but impaired in terms of switching between the closing and opening phases. In progressive supranuclear palsy (PSP), voluntary blinking is not only characterised by a severely impaired switching between the closing and opening phases of voluntary blinking, but is also slow in comparison with PD. In conclusion, in PD, facial bradykinesia reflects abnormalities of spontaneous, emotional and voluntary facial movements. In PSP, spontaneous and voluntary facial movements are abnormal but experimental studies on emotional facial movements are lacking. Data on facial bradykinesia in other atypical parkinsonism diseases, including multiple system atrophy and corticobasal degeneration, are limited. In PD, facial bradykinesia is primarily mediated by basal ganglia dysfunction whereas in PSP, facial bradykinesia is a consequence of a widespread degeneration involving the basal ganglia, cortical and brainstem structures.Matteo Bologna, Giovanni Fabbrini, Luca Marsili, Giovanni Defazio, Philip D Thompson, Alfredo Berardell
Epidemiology of primary and secondary dystonia
No full textDuring the last decade, dystonia has been increasingly recognized. However, the body of work concerning the epidemiology of this condition is not extensive. In the past, barriers to epidemiologic study have included perceptions that dystonia is rare and associated with relatively low morbidity. In addition, the absence of validated diagnostic markers for dystonia has limited the careful classification of subjects with this hyperkinetic movement disorder. A further difficulty has arisen because dystonia is a heterogeneous condition that is classified according to the age of onset (early-and late-onset dystonia), body distribution (focal, segmental, multifocal, generalized, and hemidystonia), and etiology (primary and secondary dystonia) (1). Lastly, the evolution of numerous molecular and clinical subtyping systems has lead to some variation in neurologist attitudes in the recognition and treatment of dystonia (2)
Epidemiology of primary dystonia
No full textAbstract
The prevalence estimates for primary dystonia range from two to 50 cases per million for early-onset dystonia and from 30 to 7320 cases per million for late-onset dystonia. From analysis of methodological information from 14 selected studies, we concluded that all studies on the basis of treatment settings or record-linkage systems, and two population-based surveys were probably flawed by incomplete ascertainment; the third population-based study provided the largest prevalence for late-onset dystonia but probably overestimated the prevalence of the disorder. Age and ethnic differences among study populations further biased comparisons of estimates. On the basis of methodologically more robust service-based studies and the likely percentage of underdiagnosis in a given area, more accurate prevalence estimates may be 111 per million for early-onset dystonia in Ashkenazi Jews from New York area, 600 per million for late-onset dystonia in northern England, and 3000 per million for late-onset dystonia in the Italian population over age 50 years
Hemifacial spasm
No full textHemifacial spasm (HFS) is a peripherally induced movement disorder causing clonic or tonic contractions of the facial muscles. HFS is usually unilateral and sporadic. It may be primary (mainly attributed to vascular compressions of the seventh cranial nerve in the posterior fossa) or secondary to facial nerve or brainstem damage. The two forms share a number of features but may differ in clinical presentation (simultaneous involvement of the upper and lower facial muscles in secondary forms). The spasm-related electromyogram activity is probably generated by ephaptic transmission, due to local demyelination at the entry zone of the facial nerve root (possibly owing to nerve damage caused by a compressing cerebral vessel). These findings suggest the " nerve origin hypothesis" as the main pathophysiological mechanism underlying HFS.Medical treatment (anticonvulsants or GABAergic drugs) is generally ineffective. Microvascular decompression of the facial nerve can achieve marked improvements in the majority of patients, although recurrences and complications are not uncommon. Local (orbicularis oculi or lower facial muscles) injection of Botulinum toxin (BoNT) is therefore considered the preferred symptomatic treatment for primary HFS. The long-term efficacy and safety of BoNT have been documented by clinical studies. © 2011 Elsevier B.V
Current and investigated alternatives to botulinum toxin for managing blepharospasm
No full textIntroduction: Benign essential blepharospasm (BEB) is an adult-onset focal dystonia characterized by involuntary spasms of the orbicularis oculi (OO) muscle. BEB typically develops in the fifth to sixth decade, has a variable female preponderance, and a tendency to spread to adjacent body regions. Idiopathic BEB is thought to be a multifactorial disorder resulting from the contribution of both environmental and genetic factors. To date, BEB treat- ment is largely based on botulinum A toxin (BTX).
Areas covered: This article summarizes current knowledge on the therapeutic approaches that can be proposed to BEB patients who are truly unresponsive to BTX. Current and investigated alternatives to BTX can be included in the following categories: i) alternative therapeutic weakening of the OO muscle; ii) treatments of ophtalmological complaints; and iii) therapeutic interven- tions on central nervous system mechanisms underlying BEB.
Expert opinion: Therapeutic strategies to manage BEB of patients who are truly unresponsive to BTX are very limited. Currently available treatments include myectomy, oral medication and deep brain stimulation. Experimental therapeutics include topical acetyl hexapeptide-8, a promising new drug for extending the duration of action of BTX, and transcranial magnetic stimula- tion. At present, the choice of the best treatment strategy, including medical, surgical and non-invasive treatments remains largely empirical and depend- ing on existing reports of toxicity rather than efficacy
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