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)

Ten advanced Parkinson pts (mean 8 years since diagnosis), 6 male and 4 female, 57 to 69 years old, mean 5.9 years on L-Dopa therapy, were put on Madopar HBS to assess the efficacy of the drug. All the pts had levodopa end-of-dose wearing-off type secondary motor fluctuations, 9 of them with dyskinesia and dystonia. Clinical evaluation was performed in basal conditions (pts on standard L-Dopa therapy) 1.6 and 12 months on Madopar HBS therapy. Parkinson signology was quantified with the modified Columbia scale (0 to 44), and motor fluctuations and dyskinesia with a scale 0 to 4 according to intensity and frequency. Pts received mean 1.150 mg. HBS daily dose plus 100 to 200 mg standard L-Dopa added to the early morning dose for a faster effect. At 12 months, a 60% decrease in "off" periods, a 50% decrease in feet dystonia, with no change in orofacial dystonia were observed. Dyskinesia decreased in intensity but not in frequency. There was a 50% decrease of Parkinson signology in "on" periods. In conclusion, Madopar HBS reduces the signology of the long-term Levodopa therapy syndrome and therefore is commendable in pts with advanced Parkinsonism.
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PMID:[Levodopa and controlled release benserazide in the handling of motor fluctuations in Parkinson's disease]. 184 94

Symptoms of fluctuating dystonia developed in 4 subjects of the same family during childhood or adolescence. In the 2 sisters, these symptoms were initially or subsequently associated with signs of parkinsonism, whereas in the 2 brothers they disappeared, spontaneously in at least 1 case, and signs of parkinsonism appeared later after a free interval. Anticholinergic agents and L-Dopa proved very effective against all extrapyramidal signs. These cases are similar to those gathered by Nygaard et al. in 1988 under the term "Dopa-responsive dystonia". Yet laboratory data seem to confirm that the common physiological mechanism is a disorder of tetrahydrobiopterin metabolism. Serum and urinary biopterin levels were lowered in our 4 cases but were normal in an unaffected sister. However, like the subjects affected this third sister showed a decrease of platelet serotonin which was taken as being a consequence of aromatic aminoacid hydroxylation defect due to tetrahydrobiopterin deficiency.
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PMID:[Hereditary parkinsonism-dystonia syndrome of juvenile onset with diurnal fluctuations]. 206 69

We have studied 44 patients diagnosed of idiopathic Parkinson disease included in our database of rigid-akinetic syndromes. We have compared their demographic, environmental and clinical features with the ones that presented a group on 22 patients diagnosed of idiopathic Parkinson disease and had some first degree relatives with the same disease. Patients with familial Parkinson disease are distinguished from the ones that suffer from sporadic Parkinson disease because of an early start, greater consanguinity rate and greater frequency of a similar disease in their parents. Moreover, we have seen that familial Parkinson disease patients have drunk more water from wells during their lives than the ones that suffer sporadic Parkinson disease, present greater frequency of wide motoricity disorders, dystonia, night hypokinesia, fluctuations in relation to L-DOPA and greater frequency of early going grey. We have not found either epidemiologic data which could explain the appearance of familial cases or environmental causes which could produce familial Parkinson disease. Clinical differences between the two groups are likely due to an early start of symptoms in familial Parkinson disease cases. According to our data we could not conclude that between familial and sporadic Parkinson disease are significant differences in to justify two well-defined diseases. Even, the familial presentation of idiopathic Parkinson disease could be the normal form of Parkinson disease if long survival was a favourable factor of disease onset in pre-symptomatic persons.
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PMID:[Clinical and epidemiologic characteristics of familial Parkinson disease]. 209 60

The case of an 8 year-old boy presenting with walking difficulties due to dystonia, peculiar because it was more pronounced during daytime is reported. Improvement with treatment with L-Dopa was dramatic. This diurnal fluctuation and excellent response to L-Dopa suggest the diagnosis of Segawa syndrome. The precise mechanism of the dystonia remains unknown.
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PMID:[Fluctuating muscular dystonia. Segawa's syndrome. Value of the treatment with L-dopa]. 225 91

We describe a patient with the development of paroxysmal kinesigenic dystonic choreoathetosis (PKDC) after a thalamic infarct. PKDC consists of brief episodes of dystonia or choreoathetosis triggered by movement. PKDC improves with anticonvulsants, and in some cases, with L-Dopa or anticholinergics. We review PKDC, and relate its salient features to idiopathic and secondary torsion dystonia. We postulate a similar underlying pathophysiology.
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PMID:Paroxysmal kinesigenic dystonic choreoathetosis associated with a thalamic infarct. 238 40

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

We report on two cases of children suffering from biopterin synthetase deficiency. Both were treated with the same treatment schedule with biopterin and neurotransmitters: 6-hydroxytryptophan and dihydrophenylalanine (DOPA). The only difference between the two cases is the time of diagnosis and therefore of treatment. The child who was treated early has a normal neurologic development. The other one has been treated since he was 7 months old and is mentally deficient (DQ = 0.60). This older child also suffers from dystonia probably secondary to Levodopa treatment. The authors emphasize the uncertainty of these patient's evolution owing to complications of the disease itself or those due to prolonged treatment by neurotransmitters.
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PMID:[Diagnosis of deficiency in cofactor of phenylalanine hydroxylase: a metabolic emergency]. 251 61

Four male patients and one female patient of a new family with Joseph disease are reported. Their disease was characterized by autosomal dominant inheritance, bulging eyes, rigidity and spasticity of the lower extremities, dystonia, and bradykinesia. Cerebrospinal fluid homovanillic acid level was markedly reduced. Levodopa improved dystonia. Magnetic resonance imaging revealed mild atrophy of the frontal lobe and the cerebellum and marked atrophy of the lenticular nucleus and the brain stem. Polysomnographic studies revealed non-rapid eye movement stage central type sleep apnea syndrome. This is the first report using magnetic resonance imaging and sleep apnea studies of Joseph disease.
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PMID:A new family with Joseph disease in Japan. Homovanillic acid, magnetic resonance, and sleep apnea studies. 270 4

The structure of sleep and number of body movements (BMS) and periodic leg movements during sleep (PMS), were studied in three unrelated girls suffering from L-DOPA responsive hereditary dystonia with marked diurnal fluctuation and in their 11 healthy, close relatives. All three girls had an increased number of BMS during rapid eye movement (REM) sleep. Five of the six parents and three siblings had abnormal PMS. One pair of parents had BMS similar to those of their affected daughter. The occurrence of BMS and PMS in the families studied may indicate a common mechanism for both. Because familial PMS is quite rare in its pure form, and this type of dystonia is also rarely encountered, the occurrence of BMS and PMS in members of these families may imply a causative relation between these two sleep-related motor phenomena.
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PMID:Motor abnormalities during sleep in patients with childhood hereditary progressive dystonia, and their unaffected family members. 274 Jun 94

A case of 10-year-old female with hereditary progressive dystonia with marked diurnal fluctuation (HPD) was described. Her development was normal. Then at the age of eight, she developed dystonia of the left lower extremity that became noticeable toward evening but subsided after taking sleep. And the velocity of height gain decreased at the age of nine (from 5 cm to 3.6 cm per year). Before the diagnosis of HPD, small doses of haloperidol (0.015 mg/kg/day) were given to her. Thereafter she developed progressive dystonia of all extremities and could not walk. Administration of haloperidol was discontinued, and an attempt to reverse the dystonia with L-Dopa was made. Prior to treatment with L-Dopa, a reduced concentration of cerebrospinal fluid homovanillic acid (10 ng/ml) was found. And her height was 130.5 cm (-1.33 SD) at the age of ten. Treatment with L-Dopa (18 mg/kg/day) markedly improved her symptoms within four days. This improvement has been maintained for six years without a need for increasing the doses and without neurological side effects. At the age of sixteen her height was 162.3 cm (+1.0 SD). These findings suggest a diminished dopaminergic activity and a increased susceptibility to dopamine receptor blockade in HPD.
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PMID:[Response to haloperidol and analysis of growth curve in hereditary progressive dystonia with marked diurnal fluctuation]. 280 13


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