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

We report our experience with 15 patients believed to have cortical-basal ganglionic degeneration. The clinical picture is distinctive, comprising features referable to both cortical and basal ganglionic dysfunction. Characteristic manifestations include cortical sensory loss, focal reflex myoclonus, "alien limb" phenomena, apraxia, rigidity and akinesia, a postural-action tremor, limb dystonia, hyperreflexia, and postural instability. The asymmetry of symptoms and signs is often striking. Brain imaging may demonstrate greater abnormalities contralateral to the more affected side. Postmortem studies in 2 patients revealed the characteristic pathologic features of swollen, poorly staining (achromatic) neurons and degeneration of cerebral cortex and substantia nigra. Biochemical analysis of 1 brain showed a severe, diffuse loss of dopamine in the striatum. This condition is more frequent than previously believed, and the diagnosis can be predicted during life on the basis of clinical findings. However, as with other "degenerative" diseases of the nervous system, a definitive diagnosis of cortical-basal ganglionic degeneration requires confirmation by autopsy.
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PMID:Cortical-basal ganglionic degeneration. 238 27

Heavily T2-weighted high-field MR images provide a unique opportunity for the evaluation of the extrapyramidal motor system. The images are affected by the presence of small amounts of naturally occurring paramagnetic substances--principally iron--that delineate the neostriatum (caudate and putamen), globus pallidus, red nucleus, substantia nigra, and dentate nucleus, primarily by a decrease in signal secondary to the T2* effect. Movement disorders are associated with either increased or decreased signal or both in these structures, depending on the pathologic process. In the initial evaluation of 113 patients with a variety of movement disorders, good correlation of imaging abnormalities can be made with a simplified schema of the extrapyramidal pathways and a system of classification of abnormal movements, parkinsonism/tremor, dystonia, chorea, myoclonus, and hemiballismus. Parkinsonisms are characterized by abnormalities of the cortico-ponto-cerebello-dentato-rubro-thalamo-cortico-spinal tract or the nigrostriatal tract. Dystonias are characterized by abnormalities of the neostriatum predominantly affecting the putamen. Choreas are also characterized by abnormalities of the neostriatum but predominantly affecting the caudate nucleus. Hemiballismus is characterized by lesions affecting the subthalamic nucleus or associated pathway.
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PMID:Study of movement disorders and brain iron by MR. 244 Feb 91

Clinical and neuropathological studies of a case of pallido-nigro-luysian atrophy with thalamic degeneration and ossification of the posterior longitudinal ligament (OPLL) is reported. The patient was a 72-year-old man, suffering from gait disturbance caused by OPLL for about 3 years. The clinical features were characterized by gradual development of disorientation in place, time and person, memory disturbance, vertical gaze palsy and rigidity of extremities. Dysarthria, dysphagia, bradykinesia, masked face and neck dystonia appeared at the advanced stage of his illness. There was no tremor or other involuntary movements. A clinical diagnosis of parkinsonism was suspected. The main neuropathological findings were neuronal loss and gliosis in globus pallidus, substantia nigra, subthalamic nucleus and thalamus. In addition, neuronal loss of the anterior horn of the cervical spinal cord due to compression by OPLL (C4-C7) was recognized. The neuropathological findings of the present case were consistent with systemic degenerative disorder of the nervous system affecting the pallido-nigro-luysian tract. This rare disorder should be considered in the differential diagnosis of parkinsonism in old people.
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PMID:[An autopsy case of pallido-nigro-luysian atrophy associated with OPLL]. 251 8

Tardive dyskinesia (TD) is a consequence of chronic neuroleptic therapy. It is an irregular stereotyped movement disorder that is usually choreic in appearance, and is subject to temporary volitional control. Dystonia, akathisia, and tics are uncommon variants of the classic tardive syndrome. Characteristic clinical features including amelioration by action, augementation by distraction, partial volitional suppressibility, and lack of subjective distress help differentiate TD from other movement disorders such as resting tremor, Huntington's disease, spontaneous dyskinesias, and abnormal movements accompanying psychiatric illnesses.
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PMID:Recognition and differential diagnosis of tardive dyskinesia. 257 70

A retrospective study was performed on a group of 28 patients with cerebral palsy, who had undergone a stereotactic encephalotomy for hyperkinesia or dystonia. The mean postoperative follow up period was 21 years (range: 12-27). Eighteen patients were available for follow up, nine had died, and one could not be traced. A positive result was obtained in eight of the 18 reassessed patients. Determining factors for the outcome were the degree of preoperative disability, side effects of the operation, and ageing since operation. The more favourable results were obtained in patients with hyperkinesia, tremor, and predominantly unilateral dystonia.
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PMID:Cerebral palsy and stereotactic neurosurgery: long term results. 265 66

The face is prominently or exclusively involved in several involuntary movement disorders, called "facial dyskinesias," in addition to the common buccolingual form of tardive dyskinesia. This review describes the appearance of the most frequently occurring facial dyskinesias: chorea, dystonia, tremor, and tics. Some new treatments are discussed.
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PMID:Facial dyskinesias. 266 10

Twenty-one patients with Parkinson's disease and motor fluctuations who completed a double-blind study comparing controlled-release carbidopa/levodopa (Sinemet CR4) with standard Sinemet (SS) were evaluated one year following completion of the study. Five patients remained on CR4 alone; 16 continued on CR4 plus SS, and one also required addition of bromocriptine. Patients were significantly worse (p less than 0.05) at one year compared with double-blind CR4 phase (DBCR) for nine parameters of the motor exam, six activities of daily living (ADL), Hoehn & Yahr staging, and physician's global assessment. Compared with baseline SS, patients were worse at one year for four points of the motor exam, two of mentation, behavior, and mood, and 11 parameters of ADL. Improvement at one year was noted for less action and postural tremor and decreased duration of dyskinesias for both comparison periods. There was elimination of early morning dystonia at one year over the DBCR period and more hours "on" without dyskinesias and fewer hours "on" with dyskinesias compared with baseline SS. Total levodopa dosage was not significantly changed over the year. These data suggest that, in long-term use, CR4 remains more efficacious than SS alone for Parkinson's patients experiencing motor fluctuations, although disease progression continues despite optimal medication.
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PMID:Long-term efficacy of controlled-release carbidopa/levodopa in patients with advanced Parkinson's disease. 269 Jul 30

Voluntary suppressibility of abnormal movements is helpful in the classification of movement disorders because this ability appears to be a common component of tics. However, there has been no systematic study of voluntary suppressibility in other movement disorders. We have therefore assessed 146 patients with tremors and dyskinetic disorders as to their ability to suppress movements by mental concentration. Patients were videotaped while trying to stop their movements, and the length of time they could suppress their abnormal movements was recorded. One hundred percent (10 of 10) of patients with tics could suppress movements for an average of 2.5 min. Two percent (1 of 50) of essential tremor patients could suppress the tremor, and the tremor of 24% (12 of 50) was made worse by mental concentration. Eighty percent (4 of 5) of neuroleptic-induced tremor could be improved mentally. Seventy percent (35 of 50) of patients with parkinsonian tremor could voluntarily diminish their tremor for an average of 48 s. Fifty percent (8 of 16) of chorea (tardive dyskinesia, Huntington's disease, postencephalitic) was reduced. Dystonia was suppressible in 20% (3 of 15). It is concluded that movement disorders besides tics can be voluntarily suppressed and that suppressibility should not be used to classify movement disorders. Tics, however, are easier to suppress and can be suppressed for a longer time.
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PMID:Volitional control of involuntary movements. 273 7

The clinical efficacy of the trihexyphenidyl was investigated in 100 patients with movement disorders. The study group consisted of 54 women and 46 men. Their ages ranged from 18 to 70 years, and their duration of illness varied from a few months to 36 years. Each patient had a videotape of the movements and a neurological examination, before administration of the drug, at the time of maximum or effective dosage, and one week after withdrawal from trihexyphenidyl. The drug was administered at an initial total daily dose of 2 mg and gradually increased to a total daily dose of 60 mg over a period of 4-6 weeks. Improvements were rated both clinically and from the videotapes. Three groups of movement disorders demonstrated a significant response to trihexyphenidyl: (1) dystonia 37%; tonic torticollis demonstrated a significantly better response than the clonic variant (80% vs. 22%). (2) rhythmic-oscillatory movements of brainstem-cerebellar origin (palatal myoclonus, pendular nystagmus, facial myokymia) 90%; (3) cerebellar tremor 75%. Among 32 responders, 17 (56%) continued taking trihexyphenidyl beyond 24 months. Side effects consisted of dryness of the mouth, jitteriness, stomatitis, blurred vision, and forgetfulness.
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PMID:Treatment of movement disorders with trihexyphenidyl. 277 91

Two siblings of juvenile parkinson's disease dystonic type (JPA Yokochi type 3) and hereditary progressive dystonia with marked diurnal fluctuation (Segawa, HPD) were reported. The family had consanguinity. The elder brother suffered from resting tremor of legs, left foot dystonia and left pes equinovarus at the age of 12 years and 5 months. At the age of 15, he developed tremor and rigidity of upper extremities. These symptoms did not show diurnal fluctuation and markedly responded to L-dopa treatment. He implicated wearing-off phenomenon at the age of 16, and on-off phenomenon and L-dopa-induced dyskinesia at the age of 18. He was diagnosed as JPA Yokochi type 3. The younger brother suffered from left pes equinovarus, right scoliosis and foot dystonia at the age of 8 years. These symptoms showed remarkable diurnal fluctuation, which ameliorated after sleep or rest and worsened afternoon. He noticed fine postural tremor of upper extremities at psychological tense state and right pes varus at the age of 16. He received L-dopa at the age of 17 and became to be remission. He was diagnosed as HPD. Since these two disorders related to basal ganglia show similar clinical symptoms mainly consisting of foot dystonia and similar clinicopharmacological response to L-dopa, it has been assumed that shared abnormalities in pathomechanism can exist between them. This study indicates that the same gene-regulated abnormality may participate in the development of these two disorders.
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PMID:[Two siblings of juvenile Parkinson's disease dystonic type (Yokochi type 3) and hereditary progressive dystonia with marked diurnal fluctuation (Segawa)]. 280 13


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