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)

Clonazepam or 5-(2-chlorphenyl)-1, 3-dihydro-7-nitro-2H-1,4benzodiazepin-2-one, is a close structural and pharmacological relative of nitrazepam. It has a broad spectrum of activity against the various types of epilepsy, and is effective in many patients whose condition has proved resistant to other antiepileptic drugs. Its chief uses are in status epilepticus, in which intravenous clonazepam may replace diazepam as the drug of first choice, and in the minor motor seizures of childhood, particularly petit mal absences, the Lennox-Gastaut syndrome and infantile spasms. Clonazepam is also at least as effective as current treatment in psychomotor and myoclonic epilepsies, but seems unlikely to replace phenytoin and the barbiturates in the treatment of grand mal or focal motor seizures except in patients resistant to standard therapy. Initial success with clonazepam can be followed by loss of effect, but benefit can often be restored, at least initially, by temporary interruption and re-institution of treatment. Side-effects are common with clonazepam. Most patients experience drowsiness and fatigue, which are frequent causes of withdrawal, together with lesser incidences of ataxia, dystonia, hypotonia, and hyperactivity. These effects usually disappear with continued therapy, and are minimised by gradual introduction of the drug over 2-4 weeks. Hypersalivation and excessive bronchial secretion may be a problem in children and infants.
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PMID:Clonazepam: a review of its pharmacological properties and therapeutic efficacy in epilepsy. 97 34

We reviewed the records of all patients with paroxysmal nonkinesigenic dystonia seen at Dystonia Clinical Research Center. Of the total of 25 patients, three subgroups based on etiology were discerned: primary sporadic (7 patients), psychogenic (11 patients), and symptomatic (7 patients). There were no patients with primary paroxysmal dystonia with a family history of a similar disorder. Although many of the characteristics of our sporadic cases were similar to those of familial paroxysmal dystonia reported in the literature, numerous differences were noted including adult onset, female predominance, and variability in the duration and frequency of attacks. In certain cases an overlap with PKC was found. Clonazepam and acetazolamide were effective in several patients.
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PMID:Paroxysmal non-kinesigenic dystonia. 340 Apr 99

The occurrence of myoclonic and dystonic movements as an isolated expression of a neurologic condition of hereditary pattern have been scarcely described in literature. For this entity some authors proposed the denomination "hereditary myoclonic dystonia" while others prefer the use of the expression "hereditary essential myoclonus". We present a family in which this unusual association of abnormal movements affected several members in three generations. The propositus patient is a 14-year-old girl who have noticed the dystonic movements by 7 years of age and the myoclonic ones by 13 years of age, with a slow progression. There was no reference about the effect of alcohol (abstemious patient). There was a family history of similar cases. The supplementary investigation (seric dosage of cupper, ceruloplasmine, T3, T4, TSH; acanthocytes search; CSF examination; CT scan and MRI of the head) did not show any abnormality. Clonazepam was the only medication that lead to a clinical improvement, reducing both movements.
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PMID:[Hereditary essential myoclonus. Report of a family]. 789 18

A case of periodic sweating with multifocal dystonia is reported in a 60-year-old woman. At the age of 48 years, she presented with involuntary twisting of the lower face on the right. Six months later she noticed similar movements in the head and right arm. Four years later she began having attacks of generalized sweating over the whole face, anterior region of the trunk and both arms. The attacks occurred hourly each and every day. They lasted for about 10 min and were followed by voluntary urinary voiding. The biochemical and laboratory investigations showed no abnormalities except for the luteinizing hormone and follicle-stimulating hormone values that were below normal. The computerized tomography and magnetic resonance imaging scans revealed a suprasellar cyst. Clonazepam was introduced with partial improvement of the dystonic movements but not of the sweating attacks. The patient refused surgery. Acetazolamide was added and reduced the sweating attacks. We speculate that the periodic sweating may be related to cerebrospinal fluid production and cyst enlargement, hence the ability of acetazolamide, which reduces cerebrospinal fluid production, to reduce attacks.
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PMID:A case of periodic sweating associated with a subarachnoid cyst and multifocal dystonia. 812 61

In the absence of pathogenesis-targeted therapy in most types of primary dystonia, the current management strategy is largely symptomatic. Our aim was to comparatively evaluate the patients' perception of symptomatic benefits with the medical treatment of primary dystonia. We reviewed the medical records of 206 patients who received medical treatment upon diagnosis of primary dystonia. The patients were prescribed five different dystonia medications: clonazepam, trihexyphenidyl, nortriptyline, baclofen, and levodopa. Patients tried one type of medicine during each following week and whether each medication was beneficial was recorded in a binary fashion. Subgroups analysis was performed according to the body distribution, duration, ages at onset and treatment of dystonia. A total of 172 patients were included in the analysis. The majority (84%) had focal dystonia, most frequently cervical dystonia and blepharospasm. Clonazepam received the most favorable response (40%), followed by baclofen (20%) and trihexyphenidyl (20%). Patients with focal limb dystonia gave higher rate of positive responses to levodopa (24%) compared to other focal dystonia subgroups. Clonazepam, followed by baclofen and trihexyphenidyl is a useful pharmacologic option for primary dystonia. Levodopa can be considered for isolated limb dystonia.
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PMID:Patient-reported responses to medical treatment in primary dystonia. 3224 76