Selection of muscles for botulinum toxin injection for limb dystonia is particularly challenging. Limb dystonias vary more widely in the pattern of dystonic movement and involved muscles than cervical dystonia or blepharospasm. The large variation in how healthy individuals perform skilled hand movements, the large number of muscles in the hand and forearm, and the presence of compensatory acti...

The experience of pediatric deep brain stimulation (DBS) of the globus pallidus internus (GPi) in the treatment of early-onset DYT1 generalized dystonia is still limited. Here, we report the surgical experience of bilateral GPi-DBS under general anesthesia by using microelectrode recording in a 7-year-old girl with early-onset DYT1 generalized dystonia. Excellent improvement of her dystonia wit...

Our understanding of how genotype determines phenotype in primary dystonia is limited. Familial young-onset primary dystonia is commonly due to the DYT1 gene mutation. A critical question, given the 30% penetrance of clinical symptoms in DYT1 mutation carriers, is why the same genotype leads to differential clinical expression and whether non-DYT1 adult-onset primary dystonia, with and without ...

Fixed dystonia is an uncommon but severely disabling condition typically affecting young women following a minor peripheral injury. There is no evidence of any structural lesions of the central nervous system nor any clear peripheral nerve or root damage. Electrophysiological techniques such as short intracortical inhibition, cortical silent period and a plasticity inducing protocol have reveal...

The thalamus is a critical module in the circuit which has been associated with movement disorders including dystonia. This circuit extends from cortex to striatum to pallidum to the thalamic nucleus Ventral Lateral anterior (VLa) to cortex and can be studied by activity recorded during thalamic stereotactic surgery for the treatment of dystonia. Neuronal recordings in the VLa nucleus show low ...

Therapy for most people with dystonia is symptomatic, directed at lessening the intensity of the dystonic contractions. For a small minority of patients (eg, those with dopa-responsive dystonia, Wilson's disease, or psychogenic dystonia), specific therapy directed at one of the many causes of dystonia is available. Before initiating treatment, clinicians need to decide if a patient has a form o...

Oromandibular Dystonia (OMD) is a type of focal dystonia which affects the masticatory, cervical, facial, eyelid, laryngeal, and pharyngeal muscles. OMD patients may consult dentists with involuntary movement or spasm lips, tongue, jaw opening closing, changes in occlusion, slurred speech, drooling saliva, difficulty mastication, swallowing, speaking. Due to uncommon occurrence OMD, this condit...

BACKGROUND Adult onset idiopathic isolated focal dystonia presents with a number of phenotypes. Reported prevalence rates vary considerably; well-characterized cohorts are important to our understanding of this disorder. AIM To perform a nationwide epidemiological study of adult onset idiopathic isolated focal dystonia in the Republic of Ireland. METHODS Patients with adult onset idiopathic...

Most models of dystonia pathophysiology predict alterations of activity in the basal ganglia thalamocortical motor circuit. The globus pallidus interna (GPi) shows bursting and oscillatory neuronal discharge in both human dystonia and in animal models, but it is not clear which intrinsic basal ganglia pathways are implicated in this abnormal output. The subthalamic nucleus (STN) receives promin...

Dystonias represent a group of heterogeneous neurological conditions characterized by sustained simultaneous co-contraction of agonist and antagonist muscles in one or more sites of the body. The resultant repetitive movements and abnormal postures can affect gait and execution of voluntary movements. The pathophysiological mechanisms of dystonia remain to be fully elucidated. Not long ago, dys...