View Supplementary Video Movement disorders are a major feature of Glut1 deficiency. As recently identified in adults with paroxysmal exercise-induced dystonia, similar events were reported in pediatric Glut1 deficiency. In a case series, parent videos of regular motor state and paroxysmal events were requested from children with Glut1 deficiency on clinical follow-up. A questionnaire was sent ...

Functional neuroimaging, such as positron emission tomography (PET)andfunctional magnetic resonance imaging (fMRI), provides a valuable technique for detecting regional changes in brain metabolic activity associated with human disease. These techniques have been applied in different dystonic disorders including primary generalized dystonia and dopa-responsive dystonia (DRD), as well as focal dy...

BACKGROUND No Indian studies have focused on the clinical aspects of tremor. AIMS To study the distribution of various etiological types of tremor disorders at a Movement Disorders clinic of a large, tertiary care hospital in India and to study the clinical characteristics of essential tremor [ET]. SETTING AND DESIGN Prospective cross-sectional study at a tertiary care specialty clinic. M...

The safety and efficacy of botulinum toxin for the treatment of focal hand and cranial dystonias are well-established. Studies of these adult-onset focal dystonias reveal both shared features, such as the dystonic phenotype of muscle hyperactivity and overflow muscle contraction and divergent features, such as task specificity in focal hand dystonia which is not a common feature of cranial dyst...

In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of inves...

Kinesiologic analysis of gait disorders, postural instabilities and abnormal movements is quite difficult to assess objectively by clinical observation, such as by specific scale and video recordings. In this study, we reported one of the aspects of the usefulness of three-dimensional motion analysis (Vicon Systems, Oxford, United Kingdom), which can measure inclusive data of movement disorders...

Background Head tremor may be observed in the presence of cervical dystonia and sometimes coexists with headache. We wished to investigate the presence of headache in dystonic head tremor. Methods We studied the files of 19 patients from our outpatient clinic (1997-2017) with dystonic head tremor and assessed the co-occurrence of headache. We also performed a literature search of the topic. ...

Movement disorders have been increasingly recognized in patients with HIV infection and may be due to distinct causes, as opportunistic infections or medication side effects for example. Parkinsonism, tremor and hemichorea have been more frequently noted in association with HIV and opportunistic infections. However, a variety of involuntary movements have already been described. We report a cas...

Background: Strumpel disease and dystonia are inherited disorders with the clinical picture of spastic paraparesis and hyperkinesis respectively. We present a case of a patient born from parents with these diseases who developed neurologic phenomena uncharacteristic for the classical clinical picture of his parents’ disorders. Case report: Patient V., 12, born from his father with generalized d...

Autoimmune encephalitis associated with antibodies targeting the neuronal surface antigen leucine-rich, glioma-inactivated 1 (LGI1) protein is accompanied by faciobrachial dystonic seizures (FBDS) in up to half of patients. These hallmark episodes can be mistaken for psychiatric disorders, particularly as the ictal episodes are usually not detectable with surface EEG electrodes. Accompanying im...