Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Seventy-four cases of tic syndromes were classified into four groups: chronic multiple tics, subacute multiple tics, chronic simple tics and transient simple tics, and 37 cases of chronic multiple tics (Tourette syndrome) were investigated. Clinical evaluation suggested that a transition existed between the four groups. Posture abnormalities were found in 27% of Tourette syndrome and a relation to dystonia was implied. Clinical evaluation and studies of catecholamine blockers' effectiveness suggested the validity of subtyping Tourette syndrome into four groups whose topographical or biochemical abnormalities differ. It was argued that the neurochemical basis of Tourette syndrome might lie in a multiplicity of biochemical abnormalities including disturbances of dopaminergic and noradrenergic pathways.
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PMID:Gilles de la Tourette syndrome in Oriental children. 29 28

Abnormal movements of the body segments due to lowest level gait disorders such as musculoskeletal disorders, peripheral neuropathies and radiculopathies or middle-level disorders such as hemiplegia, paraplegia and dystonia influence the motion of the centre of gravity (CG) during walking. The translation of the CG can be studied by the work done by muscles (WExt) with respect to the ground. The efficacy of gait's mechanism can be quantified by the energy transferred between gravitational potential and kinetic energies (recovery). WExt and recovery were investigated in lowest and middle-level gait disorders during level walking. No statistical significant difference was observed between patients with lowest-level gait disorders and normal subjects. However, WExt was increased for the patients with middle-level gait disorders and recovery decreased up to 20%. The measurement of changes in mechanical energy of the CG might be a summary indicator for the mechanics of pathological gait.
Gait Posture 2000 Dec
PMID:Motion of the body centre of gravity as a summary indicator of the mechanics of human pathological gait. 1115 35

Many instruments have been employed in recent years in order to quantify the posture and motion of the head in normal and pathological subjects. Evaluations of this type present many difficulties related to the influence of individual and external factors and to the accuracy of the system used. In patients with cervical dystonia (CD) the only rating scales currently used are semi-quantitative and subjective. More precise information on disease severity and response to the treatment is needed. Posture and motion of the head were evaluated by means of ELITE motion analyser (BTS, Milan, Italy) in 6 patients with the left laterocollis form of CD undergoing treatment with botulinum toxin (BTX). The method emerged as very useful for the quantification of the therapeutic response (which was more marked in motion than in posture). We found an inverse relationship between the degree of motion improvement and the restriction of motion before treatment.
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PMID:The position of the head in space: a kinematic analysis in patients with cervical dystonia treated with botulinum toxin. 1149 19

Wilson's disease (WD) is an inherited copper metabolism disorder. Gait disturbances may present with both extrapyramidal and cerebellar patterns. The frequencies of particular types of gait abnormalities have not been established; thus, the aim of the present study was to determine the occurrence of initial gait disturbances among our neurological WD patients. We analyzed 103 WD patients with neurological features at the time of diagnosis, between 2005 and 2014. The neurological and gait assessments were based on the Unified Wilson's Disease Score Scale (UWDRS), from which, we distinguished three main patterns of gait: dystonic, ataxic, or Parkinsonian. All types of gait impairment were assessed using four stages of severity (0=normal, 4=severe). We also obtained each patient's history of falls. Three patients had severe dystonia of limbs and were unable to stand or walk. Gait abnormalities were noted in 59% (59/100) of the remaining group of patients. The most common observed pattern was ataxic gait (45%; 27/59), which presented as impaired tandem in most cases. A mixed gait impairment was observed in 25% (15/59) of patients (ataxic, dystonic, and Parkinsonian, n=8; ataxic and Parkinsonian, n=7), a Parkinsonian gait in 18% (11/59), and a dystonic gait in 10% (6/59) of patients. Falls were noted in 35% of patients, but were occasionally observed in most cases. Gait disturbances are frequent in WD, and reflect the involvement of many brain structures.
Gait Posture 2015 Oct
PMID:Frequencies of initial gait disturbances and falls in 100 Wilson's disease patients. 2639 89