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)

Two young males in their thirties are reported with a clinical history and examination indistinguishable from typical females with the Rett syndrome. Both had normal early development. The first patient had a regression by the end of the second year. He was late in walking, had prominent hand-wringing from the age of 4 years, and non-progressive dystonia from the age of 14 years. He is still ambulatory. Seizures which started at the age of 18 months have been easily controlled. The second patient has had a severe seizure disorder since the age of 7 months. In his early teens, he lost ambulation and his height and weight fell below the 2nd percentile. He has severe foot dystonia without spasticity. Both patients have a normal head size and no evidence of atrophy on a CT scan of the brain. Both had kyphoscoliosis in their teens. It is difficult to evaluate the incidence of such cases. Little attention being paid to the normal early development, they hide behind vague diagnoses such as cerebral palsy, static encephalopathy, and behavior disorder. Dystonia is often confused with spasticity, the lack of paralysis is not appreciated, apraxia and hand wringing are assumed to be self-stimulatory behaviors.
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PMID:The Rett syndrome in males. 234 22

We report the clinical spectrum of 3 patients with Parkinson's disease who experienced complex patterns of levodopa-related dystonia. Dystonia was unrelieved by multiple medication regimens but responded well to continuous, duodenal levodopa infusions. Patients were able to remain mobile without severe dystonia despite a very narrow window of benefit between the levodopa concentration necessary to achieve the "on" state and that which caused the onset of dystonic spasms.
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PMID:Continuous levodopa infusions to treat complex dystonia in Parkinson's disease. 247 82

The natural history and response to different treatments were assessed in 31 consecutive patients with blepharospasm (BS) and/or oromandibular dystonia (OMD). The mean age at onset was 52.4 years and there was a female preponderance of 2.5 to 1. Ocular symptoms preceded the onset of blepharospasm in more than 50% of the affected patients, whereas psychiatric and dental problems prior to the onset of focal dystonia were found in 10% and 13% of the cases respectively. Dystonia elsewhere, mainly in the craniocervical area, was found in 23% of patients and appeared to follow a somatotopic progression. The first 2-3 years of history were crucial for the spread of dystonia to other face and body parts. When OMD was the first symptom, a lower tendency of dystonia to progress elsewhere was observed. A putative cause was found in 14% of patients who showed clinical and radiographic evidence of basal ganglia or rostral brainstem-diencephalon lesions. The response to different drugs was inconsistent although transient improvement was induced by haloperidol in 6 patients, by L-Dopa plus deprenyl in 3 patients, by trihexyphenidyl in 2 patients and by clonazepam in 2 patients. One, apparently spontaneous, remission was observed. Botulinum A toxin was injected in the orbicularis oculi of 8 patients affected by BS: moderate to marked improvement lasting 5 to 30 weeks (mean 14.5 weeks) was achieved in all cases; transient ptosis, lasting 1 to 3 weeks, occurred in 3 cases.
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PMID:Facial dystonia: clinical features, prognosis and pharmacology in 31 patients. 251 66

Neuroleptic drug-induced acute extrapyramidal syndromes (EPS) are the major reasons why patients discontinue their antipsychotic medicines. Serotonin S2 antagonists prevent catalepsy in rodents but the effects in nonhuman primates have received only minimal study and deserve further evaluation as potential "non-neuroleptic neuroleptics" (antipsychotic effects free of acute EPS). Twenty Cebus monkeys (22 to 28 yrs. old) were tested with compounds that ranged from high to very low D2/S2 ratios. These were haloperidol, clopenthixol, tefludazine, and setoperone, all tested in the dosage range of .01 to .25 mg/kg and compared with saline i.m. once weekly in a random schedule. Dystonia was scored on four different symptoms by an experienced rater blind to drug dosage. All four active compounds produced clinically indistinguishable, dose related dystonia with very similar dose thresholds. In contrast to rodent studies these nonhuman primate investigations with drugs of widely differing D2/S2 antagonism ratios produced clinically similar EPS. Thus adding an S2 antagonism component to neuroleptics appears not to provide a unique approach to neuroleptic therapy which will be free of acute EPS.
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PMID:Serotonergic aspects of acute extrapyramidal syndromes in nonhuman primates. 251 34

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

We describe a case of "hereditary progressive dystonia with marked diurnal fluctuation". The three-year-old girl had idiopathic progressive dystonia for 4 months. She had most of the characteristics described by Segawa in 1976 (small age of onset, marked diurnal fluctuation, predominant limb involvement, and dramatic relief of symptoms with small doses of L-dopa) except that there is no known family history. Her symptoms disappeared the second day after receiving L-dopa 20mg/kg/day. Dystonia would resume with the same speed if L-dopa was withdrawn. We have followed this case for more than one year till now. There is no dystonia or side-effect of drug at present. It is probably a sporadic case. The correct diagnosis and treatment is important for this kind of patient.
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PMID:Hereditary progressive dystonia with marked diurnal fluctuation: report of a case. 263 84

Twenty-six children aged 4 to 15 years who were to receive cancer chemotherapy were enrolled in a double-blind, randomized, crossover trial that compared the antiemetic efficacy of a four-drug regimen (the MBDL regimen: metoclopramide, 8 mg/kg; benztropine, 0.04 mg/kg; dexamethasone, 0.7 mg/kg; lorazepam, 0.1 mg/kg), given over 24 hours, with the efficacy of chlorpromazine, 3.3 mg/kg, given in four doses over 24 hours. The MBDL regimen was more effective than chlorpromazine in both objective and subjective measures of antiemetic control. Of 26 children, 23 (89%) had less vomiting on the MBDL regimen, and 20 (77%) of 26 patients or parents preferred this regimen (p less than 0.01). The MBDL regimen reduced the number of vomiting episodes by a mean of 4.0 (p less than 0.01) and reduced the duration of vomiting by a mean of 3.7 hours (p less than 0.01). A moderate level of sedation was documented at some stage in the 24-hour period of observation in 27% on the MBDL regimen and in 35% receiving chlorpromazine. Dystonia was seen in 1 (4%) of 26 children. We conclude that the MBDL regimen is safe in children and more effective than chlorpromazine.
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PMID:Antiemetic therapy for chemotherapy-induced vomiting: metoclopramide, benztropine, dexamethasone, and lorazepam regimen compared with chlorpromazine alone. 266 89

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

Dystonia musculorum in mice is a hereditary autosomal recessive disorder, characterized by a progressive neuromuscular incoordination. This paper describes the ultrastructural changes in the spinal cord and compares and correlates the results with changes in the spinal ganglia in dystonic mice. Ganglion cells exhibited various stages of degeneration and pyknosis. The dorsal roots of the spinal nerves showed severe degeneration and loss of myelinated fibres accompanied by fibrosis, whilst the ventral roots appeared normal. Nerve cells within the dorsal and intermediate grey matter (laminae I to VII) of the spinal cord showed chromatolysis, atrophy, and necrosis. Boutons exhibited glycogen accumulation or an increase in their electron density. Axonal changes consisted of focal swellings, marked accumulation of neurofilaments, membranous and dense bodies, and disintegration of axoplasm. Myelin sheath degeneration of Wallerian type and degenerating axons were prominent in the dorsal, lateral and ventral white columns of the spinal cord. Glial reactions in the spinal cord were limited to mild hypertrophy and hyperplasia of astrocytic processes. The process of phagocytic activity was not intense in spite of the presence of an abundance of degenerating myelin and cell debris. This study showed that the ultrastructural changes in the spinal cord are more severe than those seen with routine light microscopy. The detection of definite neuronal degeneration of the dorsal root ganglia and spinal cord suggests that the defect apparently operates at the level of cell bodies, as well as axons, of the primary and second order sensory neurons.
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PMID:Fine structural study of the spinal cord and spinal ganglia in mice afflicted with a hereditary sensory neuropathy, dystonia musculorum. 280 58

The term dystonia was introduced by Oppenheim and Vogt in 1911 to describe the relatively slow, sustained, frequently forceful contorting movements involving striatal muscles. Dystonia is characteristically seen in childhood ("primary dystonia"), but also occurs in a variety of other disorders of the CNS ("secondary dystonia"). In the case of childhood dystonia (dystonia musculorum deformans) symptoms usually occur in young patients in which case the illness is usually inherited as either autosomal dominant or recessive. In cases of adult onset dystonia, genetic factors are less likely (Eldrige, 1970). Although dystonic movement disorders have been presumed to originate from dysfunction of the basal ganglia, examination of the brains of patients who have died with idiopathic or hereditary dystonia musculorum deformans have revealed no consistent neuropathological or neurochemical abnormalities (Zeman, 1970). Furthermore, therapy of value in the treatment of other basal ganglia disorders, in these conditions, has not been helpful (Fahn, 1982). The following paper will discuss evidence implicating deranged hypothalamic neuropeptidergic functions in dystonia. We have developed a hypothesis, which reviews and incorporates published data, in which we discuss the role of deranged hypothalamic neuropeptidergic function in the pathnophysiology of idiopathic dystonia.
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PMID:The hypothalamus in dystonic movement disorders. 284 Apr 7


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