Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two patients with paroxysmal attacks of "no-no" direction head tremor and mild torticollis are described. One of them had the characteristic features of paroxysmal dystonic choreoathetosis and responded well to clonazepam.
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PMID:Paroxysmal dystonic head tremor. 200 30

The genetically dystonic (dt) rat is an animal model of dystonia that displays sustained abnormal movements that include: torticollis, clasping of the hindlimbs, rigidity of the limbs, and contortions of the trunk. Since serotonin (5-HT) has been shown to be involved in some animal models of movement disorders, the functional responsiveness of the 5-HT system in dt rats and phenotypical normal littermates was examined by administering 5-HT agonists selective for different receptor subtypes and observing behavioral responses associated with the activation of specific 5-HT receptor subtypes. The dt rats were 6-fold more sensitive to the ability of the 5-HT1A agonist 8-OH-2-(di-n-propylamino)tetralin (8-OH-DPAT) to produce the 5-HT behavioral syndrome. The dt rats demonstrated a diminished head-shaking response following administration of the 5-HT2 agonist 1-(2,5-dimethoxy-4-bromophenyl)-2-aminopropane (DOB). However, the dt rats also displayed significantly fewer head shakes following mechanical stimulation of the aural pinnae. The inability of the dt rats to demonstrate head-shaking behavior following stimulation of 5-HT2 receptors is probably due to the dt rat's difficulty in producing the motor responses involved in this behavioral response and do not reflect alterations in 5-HT2 receptor sensitivity. These results suggest that the 5-HT system, particularly 5-HT1A receptors, may have an integral role in the abnormal movements displayed by the genetically dystonic rat and movement disorders in general.
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PMID:Altered behavioral responses mediated by serotonin receptors in the genetically dystonic (dt) rat. 201 8

A genetic study of idiopathic focal dystonias was undertaken by examining 153 first-degree relatives of 40 index patients with torticollis (14 patients), other focal cranial dystonias (16 patients), and writer's cramp (10 patients). Nine relatives with dystonia were identified in 6 families; 8 of these had symptoms such as clumsiness or tremor, but none were aware of any dystonia. A further 4 relatives, now decreased, were affected by history. Overall, 25% of index patients had relatives with dystonia. The results of segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrance as a common cause for focal dystonia. Segregation ratios were not significantly different from those ratios observed in generalized or segmental dystonia in the United Kingdom, and it is possible that a single autosomal dominant gene mutation is responsible for inherited dystonia in the majority of patients irrespective of distribution or severity.
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PMID:A genetic study of idiopathic focal dystonias. 204 48

We reviewed detailed clinical features of 266 patients with idiopathic cervical dystonia, commonly called spasmodic torticollis. Mean age at onset (41 years), female-to-male ratio (1.9:1), clustering of onset between ages 30 and 59 (70%), familial history of dystonia (12%), and remissions (9.8%) were similar to those found in previous studies. In contrast to the single prior large clinical study of this disorder, no predominance of right-handers or significant thyroid disease was found. Pain, which occurred in 75% of patients and contributed to disability score (p less than 0.01), distinguishes this syndrome from all other focal dystonias. Pain was also strongly associated with constant (vs. intermittent) head turning, severity of head turning, and presence of spasm. Eighty-three percent of patients had deviation of the head of greater than 75% of the time when sitting with the head unsupported (constant head deviation at rest). Of the 97% who had head turning, 81% also had head tilting in various combinations. The 23% with hand tremor had an older age at onset (mean, 46 vs. 41 years; p less than 0.05). An earlier age at onset (p less than 0.05) was seen in patients with a family history of dystonia (mean, 36 years), with trauma shortly preceding symptoms (mean, 36 years), with a change in the direction of head turning (mean, 30 years), and with remissions (mean, 33 years). Jerky movements or forced transient spasms of the head occurred in 62% of the patients, and these patients would be the ones for whom the designation "spasmodic torticollis" could logically apply.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Idiopathic cervical dystonia: clinical characteristics. 205 4

We studied 300 patients, 61% women, with mean age 49.7 years and mean duration of dystonia 7.8 years, to determine the demographic and clinical characteristics of cervical dystonia (CD) and its relationships to other movement disorders. Torticollis was present in 82%, laterocollis in 42%, retrocollis in 29%, and anterocollis in 25%; however, the majority (66%) had a combination of these abnormal postures. Scoliosis was present in 39%, local pain reported by 68%, and 32% had evidence of secondary cervical radiculopathy. In addition to CD, 16% of patients had oral dystonia, 12% mandibular dystonia, 10% hand/arm dystonia, and 10% had blepharospasm. Tremor was noted in 71% of patients; head-neck tremor was present in 60%, and tremor in other body regions was present in 32%. A family history of a movement disorder was present in 44% of the CD patients. Tardive dystonia was the cause in 6%; 11% had posttraumatic dystonia. Anticholinergic drugs provided moderate improvement in 33% of patients, but local intramuscular botulinum toxin injections relieved CD, local pain, or both in over 90% of all treated patients.
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PMID:Cervical dystonia: clinical findings and associated movement disorders. 206 38

220 patients with isolated and idiopathic spasmodic torticollis were followed and treated over a 14 year period. Each patient was given a short questionnaire leading to the present retrospective data analysis. In most areas, including female preponderance and frequency of postural tremor, the findings confirmed previous studies and highlighted particular points: importance of psychopathological antecedents and association with stressful life-events. The discussion deals with some of the conflicting debates surrounding this unusual disorder. What is the role of psychopathological factors? What is the therapeutic prognosis? The best therapeutic results were obtained by combining anticholinergic drugs, local injections and rehabilitation.
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PMID:Spasmodic torticollis--review of 220 patients. 207 Feb 97

Psychopathology is reported to be common in patients with spasmodic torticollis (ST). We describe two ST patients with a coexisting phobic neurosis. In the first patient the phobic neurosis appeared independent of ST. In the second patient the phobia could be directly attributed to the development of essential tremor which may be an antecedent to the onset of ST. The two phobias were successfully eliminated with paradoxical intention. The elimination of the phobia had no effect on ST. Care should be taken in assuming that the presence of psychopathology is causally relevant to the development of ST.
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PMID:Spasmodic torticollis and phobic neurosis. 213 42

Alcohol-responsive myoclonic dystonia is reported in 26 individuals in a six-generation family, thus indicating autosomal dominant inheritance. Twenty affected family members aged between 3 and 56 years were examined on one occasion. Myoclonus in arms, shoulder, and neck distribution was seen in 17, with occasional generalized jerks in 14. Leg dystonia/hemidystonia was seen in two infant cases, writer's cramp in seven, torticollis/retrocollis in two, and finger tremor in three. The onset of myoclonus was regularly reported from 2 to 3 years of age, the onset of leg dystonia/hemidystonia from 6 to 18 months of age, writer's cramp from early school age, and neck dystonia from late teenage. The effect of alcohol had been noted in 10 individuals, and seven of them abused alcohol. Once established, the neurological signs did not progress significantly. Leg dystonia resolved in two juvenile members. Two adult members had recovered from myoclonus: one elderly man and one posthemorrhagic spastic hemiplegic man. Extensive family investigation is necessary to clarify the clinical variation of this autosomal dominant disorder of involuntary movements.
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PMID:Alcohol-responsive myoclonic dystonia in a large family: dominant inheritance and phenotypic variation. 225 50

Five patients presenting with isolated tremors of the trunk or neck are described. Their clinical features were similar to seven other patients who presented with head tremor, or arm and head tremor, but then eventually developed obvious torticollis, sometimes with arm dystonia. We conclude that isolated tremor of the trunk or head, especially of slow frequency (2-5 Hz), and in the case of the head in a "no-no" direction, may be the initial manifestation of focal dystonia.
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PMID:Trunk and head tremor as isolated manifestations of dystonia. 225 64

Microelectrode recordings in the rostral (n. reticularis) and lateral (ventralis lateralis) human thalamus were carried out in locally anaesthetized diskinetic patients during stereotaxic operations. Their responses to voluntary motor tasks prompted by imperative verbal stimuli were tested. Spontaneous and evoked unit activities were studied using computer processing techniques. In the n. reticularis thalami and immediately adjacent thalamic zones, not only units reacting during the initiation of voluntary movements (100-200 msec before the movement), but also units responding to the verbal command itself ('triggered verbal command' units) were found. They proved to be concerned directly with the semantic meaning of the command. In the VL anterior area (Voa-Vop in German nomenclature) the majority of the units responded during the phases of initiation and/or realization of the voluntary motor act ('voluntary movement' units of Jasper and Bertrand 1966); when these units were not spontaneously rhythmic they were transiently transformed into rhythmic (5 +/- 1 Hz) ones. This transformation appeared during the preparation and realization of movement but also in some cells as a rebound phenomenon. In patients without tremor (akinetic and rigid forms of parkinsonism, torticollis), the transient rhythmogenic transformation was frequently provoked by the repetition of motor tasks. In the posterior part of VL (Vim), cells were driven by proprioceptive inflow coming from a specific peripheral region. They react also during the voluntary movement of the same region. The majority of these units were rhythmic at 5 +/- 1 Hz, and they presented a close correlation in phase and frequency with the tremor. The anatomical locations of the three main pools of neurons were determined. 'Triggered verbal command' units were placed more anteriorly and laterally. 'Voluntary movements' and 'rhythmic 5 +/- 1 Hz units' had identical spatial localizations. This fact supports the contributions of these two last types to the central mechanisms of both tremor and voluntary movement.
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PMID:Localization in human thalamus of units triggered during 'verbal commands,' voluntary movements and tremor. 241 16


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