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 reviewed the medical records and videotapes of 100 patients with tardive dyskinesia (TD) referred to our movement disorders clinic to characterize the spectrum of hyperkinetic movement disorders caused by dopamine receptor blocking drugs (DRBD). Tardive stereotypy, present in 78 patients, was the most common type of TD, followed by tardive dystonia, akathisia, tremor, chorea, and myoclonus. Sixty-four had a combination of these hyperkinesias. In a second study, a "blind" review of videotapes of patients with a variety of movement disorders found that DRBD were the cause of stereotypic movements in 89.3% of patients, and 96.1% of patients with TD had stereotypy. We conclude that stereotypy can be readily differentiated from other hyperkinetic movement disorders and that its presence in an adult is highly suggestive of prior exposure to DRBD.
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PMID:Tardive stereotypy and other movement disorders in tardive dyskinesias. 849 49

We studied 53 patients (64% females) with static brain lesions who developed progressive movement disorders. Of these, 50 (94%) had dystonia, 17 (32%) tremor, eight (15%) parkinsonism, seven (13%) myoclonus, and three (6%) chorea. The precipitating insults included perinatal hypoxia/ischemia in 22 (42%), stroke in 12 (23%), head injury in eight (15%), encephalitis in eight (15%), and carbon monoxide poisoning, kernicterus, and radiation necrosis in one patient (2%) each. Among the 30 patients with initial insult occurring at age 2 years or younger (Infant group), distribution of dystonia at follow-up was focal in three (10%), segmental in eight (27%), unilateral in 10 (33%), and generalized in nine (30%). The mean latency between the original injury and onset of movement disorder was 25.5 +/- 16.7 years. Among the nine patients who developed dystonia after an insult occurring between ages 6 and 17 (Childhood group), the distribution of dystonia at follow-up was segmental in two (33%) and unilateral in seven (78%); the mean latency of dystonia onset was 4.9 +/- 7.8 years. Of the 14 patients in the Adult group (injury at age 25 or older), 11 developed dystonia, two developed parkinsonism, and one had carbon monoxide encephalopathy and parkinsonism. The distribution of dystonia in the 11 patients at follow-up was segmental in three (27%) and unilateral in eight (73%). The mean latency of movement disorder onset in the 14 patients of the Adult group was 2.5 +/- 4.9 years. No individuals in the Childhood or Adult groups became left-hand dominant; by comparison, nine of the 30 individuals in the Infant group became left-handed. In conclusion, brain injury at a young age is associated with a longer latency to onset of subsequent movement disorder, a greater tendency to development of generalized dystonia, and a greater probability of altered handedness. These tendencies may result from differences in age-related neuroplasticity.
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PMID:Delayed-onset progressive movement disorders after static brain lesions. 890 76

Three siblings of a consanguineous parents with involuntary movements are reported. The mother had only a very slight neck tremor, without any other neurological abnormality, and the father had died. The 38-year-old son (Case 1) complained of involuntary movements at the age of 6. His involuntary movements were observed in the tongue, perioral region and upper and lower extremities: jerky movements with dystonic features. The 46-year-old elder brother (Case 2) experienced involuntary movements at the age of 18. Involuntary movements were observed in the upper extremities; he also had torticollis and tremulous movements in the neck, and jerky movements in the perioral region. They showed gait disturbance and dysarthria. The 35-year-old sister (Case 3) also experienced involuntary movements. When she was writing, her involuntary movements were obvious: dystonia and myoclonic jerks. Tremor in the neck was also seen. Their intelligence was below average. We concluded that this family had hereditary torsion dystonia, with myoclonus, and low intelligence. This condition may be associated with an autosomal recessive gene.
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PMID:Hereditary non-progressive torsion dystonia with intellectual disturbance. 858 May 54

Patients with cortical-basal ganglionic degeneration (CBGD) display prominent rigidity and apraxia, exhibit an asymmetric onset of symptoms, and may show other symptoms including abnormal saccadic eye movements, the "alien limb" sign, limb dystonia, and myoclonus. We compared the neuropsychological test performances of 21 CBGD patients with 21 Alzheimer's disease (AD) patients displaying no extrapyramidal symptoms and with 12 ADA patients who did show such symptoms. Groups were matched for age, educational level, and overall severity of dementia. Since the cognitive deficit was mild in most CBGD patients, most AD patients included in this study were also only mildly demented. The CBGD patients performed significantly better than the AD patients on test of immediate and delayed recall of verbal material; whereas the AD patients (with or without extrapyramidal symptoms) performed better on tests of praxis, finger tapping speed, and motor programming. The CBGD and AD groups all displayed prominent deficits on tests of sustained attention/mental control and verbal fluency, and exhibited mild deficits on confrontation naming. The CBGD patients endorsed significantly more depressive symptoms on the Geriatric Depression Scale.
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PMID:Neuropsychological functioning in cortical-basal ganglionic degeneration: Differentiation from Alzheimer's disease. 861 72

OBJECTIVE--To analyse the natural history of progressive supranuclear palsy (PSP or Steele-Richardson-Olszewski syndrome) and clinical predictors of survival in 24 patients with PSP confirmed by necropsy, who fulfilled the NINDS criteria for a neuropathological diagnosis of typical PSP. METHODS--Patients were selected from the research and clinical files of seven medical centres involving tertiary centres of Austria, England, France, and the United States. Clinical features were analysed in detail. The patients' mean age at onset of PSP was 63 (range 45-73) years. RESULTS--The most frequent clinical features (occurring in at least 75% of the patients) were early postural instability and falls, vertical supranuclear palsy, akinetic-rigid predominant parkinsonian disorder characterised by symmetric bradykinesia and axial rigidity unrelieved by levodopa, pseudobulbar palsy, and frontal release signs. Occasionally, segmental dystonia or myoclonus were described, but neither aphasia nor alien limb syndrome was reported. Fractures occurred in 25% of the patients but were unrelated to the severity of the gait or to the presence of falls. Median survival time was 5.6 (range 2-16.6) years. Onset of falls during the first year, early dysphagia, and incontinence predicted a shorter survival time. Age at onset, sex, early onset of dementia, vertical supranuclear palsy, or axial rigidity had no effect on prognosis of survival. Pneumonia was the most common immediate cause of death. PSP was most often clinically misdiagnosed as Parkinson's disease. Errors in diagnosis suggest that PSP is underdiagnosed. CONCLUSION--Progressive onset of early postural instability with falls or supranuclear vertical palsy in the fifth decade, should suggest the diagnosis of PSP. Onset of falls during the first year are emphasised, as they could lead to an early diagnosis and influence the prognosis of patients with PSP. Whether appropriate treatment of the dysphagia could prolong the survival of PSP patients needs to be explored.
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PMID:Natural history of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) and clinical predictors of survival: a clinicopathological study. 864 26

This review explores the history and use of the terms essential myoclonus and myoclonic dystonia. In addition, the review proposes that hereditary essential myoclonus and dominantly inherited myoclonic dystonia, with lightning jerks and dramatic response to alcohol, are the same disease, although proof of this hypothesis must come from ongoing genetic studies.
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PMID:Essential myoclonus and myoclonic dystonia. 899 70

We describe a case of a patient with Creutzfeldt-Jakob disease (CJD) characterized by a rapid clinical course lasting one and a half months, by: presence of focal dystonic movements at onset, absence of mental deterioration in the period preceding the impairment of consciousness, ataxia, myoclonus and periodic EEG abnormalities. The autopsy confirmed subacute spongiform encephalopathy, but no evident neuronal loss was observed. An acute clinical course of CJD may explain this latter histological finding which, in turn, probably provides an explanation for the absence of intellectual impairment.
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PMID:Rapidly progressive form of Creutzfeldt-Jakob disease without dementia: a case report. 870 72

We report two cases of complex movement disorders induced by fluoxetine. A 72-year-old woman developed rhythmic palatal movements, myoclonus, chorea, and possibly dystonia after 2 years of therapy with fluoxetine. On withdrawal of fluoxetine, the movements abated after 5 days and did not recur. The second patient, a 58-year-old man, developed myoclonic jerking and rapid, stereotypic movements of his toes after a year of fluoxetine therapy. These complex movements have not been reported previously as an adverse effect of fluoxetine.
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PMID:Complex movement disorders induced by fluoxetine. 925 Oct 94

This 44-year woman was admitted for weight loss and global intellectual slowing. She had mild chronic alcoholic neuropathy. She was discontinued alcoholic consumption for 6 months and was given disulfiram (1.5 g/day) since then. She developed over a 5-day period acute neuropathy, confusion and extrapyramidal symptoms with oculo-cephalogyric and dystonic movements and myoclonus. Electromyography revealed a severe polyneuropathy. After disulfiram withdrawal, confusion and extrapyramidal symptoms disappeared within a few days, but sensitivo-motor deficit improved more slowly. Nerve biopsy was suggestive of a pure axonal neuropathy.
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PMID:[Acute and reversible myoclonic encephalopathy, extrapyramidal syndrome, polyneuropathy caused by chronic disulfiram poisoning]. 874 31

Chronic acquired hepatocerebral degeneration (CAHD) is a heterogeneous disorder that can occur with a primary neurologic, hepatic, or combined presentation. Little has been added to the understanding of this disorder since the detailed, early clinical and pathological descriptions. The spectrum of clinical presentations can be neuropsychiatric (apathy, lethargy, excessive somnolence), a movement disorder (ataxia, tremor, chorea, parkinsonism, myoclonus, dystonia), or both. Cortical laminar necrosis and polymicrocavitation in the cortex and basal ganglia are combined with cerebral and cerebellar atrophy. Microscopically, Alzheimer type II astrocytes and cytoplasmic glycogen granules are characteristic. Recent neuroradiological observations in patients with liver failure have shown a specific magnetic resonance (MR) imaging appearance with a hyperintense T1 signal in the pallidum, putamen, and, rarely, mesencephalon. Using clues from a similar MR appearance in patients receiving total parenteral nutrition as well as animals given parenteral manganese, and the knowledge that manganese is cleared by the hepatobiliary system, deposition of manganese in the brain is postulated in patients with CAHD. In this review we describe three cases of CAHD with detailed clinical and radiological documentation and discuss the aforementioned pathogenetic mechanisms.
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PMID:Chronic acquired hepatocerebral degeneration: case reports and new insights. 886 9


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