Dysphagia in a Patient with Cervical Dystonia
Conclusion The edrophonium challenge test may be useful for diagnosing cervical dystonia. PMID: 28824069 [PubMed - as supplied by publisher]
GNAO1 encephalopathy comprises a spectrum of neurologic phenotypes that result from de novo heterozygous mutations in GNAO1, a gene coding for the subunit of a G protein that is highly expressed in the CNS and is involved in second messenger signaling. De novo heterozygous mutations in the gene were first described in patients with a severe, infantile-onset epileptic encephalopathy known as Ohtahara syndrome.1 However, patients with a predominant motor disorder, characterized by infantile hypotonia developing into severe chorea and dystonia, have also been identified.2,3 While it is not unusual for novel neurogenetic disor...
Conclusions: Vim MRgFUS is a promising, incision-free, but nevertheless invasive technique to effectively treat tremors other than essential tremor. Future studies on larger samples and longer follow-up will further define its effectiveness and safety. Clinicaltrials.gov identifier: NCT02252380. Classification of evidence: This study provides Class IV evidence that for patients with tremor not caused by essential tremor, MRgFUS of the Vim improves the tremor of the contralateral hemibody at 6 months.
Although the diagnostic uses of TMS in movement disorders are limited, it has been used in a variety of ways to give more information on the central pathophysiology of different conditions. It may also hold some promise as a potential therapeutic tool. I will describe the ways TMS has contributed to the understanding of dystonia. Initial studies investigated measures of motor inhibition, showing that GABAergic short interval intracortical inhibition, and “surround inhibition” was deficient in patients with dystonia.
To analyse the influence of the primary somatosensory cortex (SI) on the motor cortex (MI) in dystonia in regards to the effectiveness of deep brain stimulation (DBS) of the globus pallidus interna (GPi).
changes in interhemispheric connectivity have been recently studied in Huntington ’s Disease (HD), although their significance and temporal relation with clinical features are still debated. We studied interhemispheric connectivity in healthy volunteers, early HD and in patients with idiopathic dystonia.
Although movement disorders like Parkinson ’s Disease (PD) or dystonia have traditionally been regarded as basal ganglia dysfunction, recent evidence has emerged of cerebellar involvement in the pathophysiology of these movement disorders.
Dystonia is a disorder that manifests as an involuntary muscle contraction that may be generated by abnormal processing of sensory inputs. Abnormalities of motor control occur mainly in circuits of some complexity. An important feature in blepharospasm (BSP) is the need for a fine control of the level of eye closure, which may be abnormal in BSP patients.
This study tests the hypothesis that Somatosensory Evoked Potentials (SEPs) and Central Motor Conduction Times (CMCT) may predict outcome from DBS in childhood dystonia.
Study the differences in the oscillatory activity of the internal globus pallidus (GPi) in Parkisnon ’s disease, dystonia, chorea and Tourette’s síndrome