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)

In some kinds of idiopathic dystonia, including paroxysmal dystonia, a role of sex hormones has been suggested because of female predominance and onset, recurrence, or exacerbation of dystonic symptoms with pregnancy. Similar effects of pregnancy have recently been reported in a model of paroxysmal dystonia, the genetically dystonic hamster. Dystonia in mutant hamsters of both genders is transient, i.e., exhibits spontaneous remission at around puberty, strongly suggesting involvement of gonadal sex hormones. For exploration of the role of sex hormones in dystonia, we undertook a series of ontogenetic experiments in male and female dystonic hamsters. Mutant animals of both genders exhibited the same postnatal development of dystonia with maximum severity of dystonic attacks between weaning and approximately 40 days of age and spontaneous remission thereafter. As shown by plasma sex hormone determinations and, in females, vaginal cytology, spontaneous improvement of the movement disorder coincided with puberty in both genders. Male and female hamsters had about the same plasma levels of progesterone. Compared with nondystonic hamsters, onset of puberty was significantly retarded in both male and female dystonic hamsters. Furthermore, body weight gain was lower in dystonic animals, indicating retarded postnatal development. Gonadectomy at time of weaning did not alter the age-dependent development and remission of dystonia, suggesting that gonadal sex hormones are not critically involved in the disease in hamsters. We propose that transient paroxysmal dystonia in mutant hamsters is caused by postnatal retardation of brain development resulting in a temporary impairment of brain functions with spontaneous remission independent of gonadal sex hormones. In view of the fact that the brain can synthesize steroids such as progesterone independent of peripheral glands in both genders, such neurosteroids might be involved in the postnatal brain maturation that leads to remission of dystonia at around puberty in mutant hamsters.
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PMID:Gonadal sex hormones and dystonia: experimental studies in genetically dystonic hamsters. 788 61

Hallervorden Spatz syndrome (HSS), described in 1.922, is a rare progressive disorder recessively inherited involving the basal ganglia. It is manifested clinically by mental deterioration, rigidity, choreoathetosis and spasticity evident during the first two decades of life. Increased concentration of iron in the globus pallidus and substantia nigra has been demonstrated convincingly. the objective of this paper is to describe two venezuelan children with this syndrome. Patient 1 is a 14-year-old boy with progressive impairment of language, mental deterioration and slowing of voluntary movements started at the age of 8 years. Patient 2 is a young girl first examined at 8 years of age because of psychomotor development delay, progressive impairment of gait, rigidity of the limbs, progressive dystonia and mental deterioration. Multiple test were performed, including metabolic studies, CT scan and magnetic resonance imaging in the brain. These two cases may lead us to think that besides the Huntington Disease, the HSS is also an entity to be taken into consideration in a young patient with movement disorder, mental deterioration and progressive course.
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PMID:[Hallervorden-Spatz syndrome in 2 Venezuelan patients]. 791 58

A 45-year-old white male with a positive family history for various neurological disorders (not including dystonias), and a long history of neuroleptic exposure on account of a chronic schizoaffective illness, developed severe torsion trunkal movement to the left which were accompanied by inversion of the left arm and outward extension of the right arm, as well as left torticollis. The axial dystonia, which was refractory to treatment, was disabling interfering with the activities of daily living, posture and gait. Radiological studies revealed marked dextroscoliosis. The administration of clozapine in dosages of 200 mg p.o. in the morning and 250 mg p.o. at bedtime, resulted in a significant improvement of the neck and trunk dystonia. After the discontinuation of the clozapine, an exacerbation of the movement disorder back to baseline levels prior to the use of this agent, was observed. Subsequent therapy with thioridazine in a dosage of 600 mg/day did not mask or treat the dystonia. The clinical implications of these findings are discussed.
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PMID:Improvement of axial dystonia with the administration of clozapine. 792 26

The behavioural and movement disorders reported in 240 patients described in the literature with lesions affecting the caudate nucleus, putamen and the globus pallidus (lentiform nucleus) have been analysed. Reports were classified into two groups: small or isolated lesions involving the said nuclei alone; and large lesions with additional involvement of the adjacent internal capsule and/or periventricular white matter. Amongst the 240 cases, dystonia was the most frequent movement disorder recorded (36%); chorea (8%) and parkinsonism (6%) or dystonia-parkinsonism (3%) were uncommon. The commonest behavioural disturbance was the syndrome of abulia (apathy with loss of initiative and of spontaneous thought and emotional responses) (13%); disinhibition was rare (4%). Confusion usually was associated with intracerebral haemorrhage and depression was a relatively non-specific finding. Aphasia was extremely rare with lesions confined to these basal ganglia structures. Lesions of the caudate nucleus rarely caused motor disorders but were more likely to cause behavioural problems. Chorea has been described in only 6% of those with caudate lesions, and dystonia in only 9%. The most significant behavioural disturbance described in 28% of those with caudate lesions was the syndrome of abulia, sometimes alternating with disinhibition (11%). Lesions of the lentiform nuclei rarely caused abulia (10%) and did not produce disinhibition, but they commonly caused dystonia (49%), particularly when the putamen was involved (63%). Bilateral lesions of the lentiform nuclei, either of the globus pallidus or of the putamen, caused parkinsonism (19%) or dystonia-parkinsonism (6%) infrequently. The prominence of the behavioural disturbance of abulia with caudate lesions emphasizes the more complex cognitive role of this basal ganglia structure. The frequent occurrence of dystonia and less commonly of parkinsonism with lentiform lesions emphasize the motor roles of putamen and globus pallidus.
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PMID:The behavioural and motor consequences of focal lesions of the basal ganglia in man. 792 71

Dystonic movements and other dyskinesias often cause diagnostic difficulties due to their complex symptomatology. Namely focal dystonias are frequently misdiagnosed as conversion reactions. Idiopathic dystonias are generally considered a nonstructural (neurobiochemical) disorder of the basal ganglia. Many case reports, however, have dealt with patients presenting with "atypical" dystonia whose symptoms were relieved by psychotherapy or hypnosis. We present the histories of two young women exhibiting focal dystonia emerging for the first time under circumstances of profound emotional trouble. We discuss the general difficulties in the diagnosis of dystonic movement disorders and review the criteria for the diagnosis of "psychogenic dystonia". The basal ganglia integrate limbic, proprioceptive and sensorimotor inputs to create emotionally and functionally appropriate voluntary movements. Therefore, the traditional dichotomy "psychogenic-somatogenic" appears to be inappropriate when applied to extrapyramidal movement disorders. In a psychosomatic understanding, the assumption of a psychogenic "trigger" for a somatic movement disorder does not mean a contradiction.
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PMID:[Psychosomatic aspects of focal dystonia: two case reports]. 793 71

Mild myoclonus is reasonably common with various cyclic antidepressants. However, antidepressants rarely cause severe myoclonus, and no risk or predisposing factors have been reported in the literature. We report a case of exceptionally severe myoclonus developing at therapeutic doses and modest serum levels of imipramine. The patient went on to experience dystonia and catatonia. Both of these were in typical settings (after haloperidol and with psychotic bipolar depression, respectively) and responded to typical treatment. On further investigation, the patient was found to have left-sided schizencephaly and a corresponding history of very mild developmental delay. We suggest that the onset of one movement disorder after drug therapy (eg, myoclonus) may predict the development of other movement disorders (e.g., catatonia). We further propose that severe tricyclic-induced myoclonus should prompt the physician to rule out a coexisting structural lesion of the central nervous system.
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PMID:Severe imipramine-induced myoclonus in a patient with psychotic bipolar depression, catatonia, and schizencephaly. 795 45

The concurrence of pregnancy and movement disorders is an uncommon event in a general neurologic practice. Even at specialized movement disorder referral centers, there is insufficient experience to adequately guide management of pregnancy, except perhaps in the case of WD. The questions posed most urgently by patients regard the safety of medication, an issue on which there is insufficient data, and their ability to care for a child for at least the next decade, an issue that differs by disease and social situation. The author's formulation of efficacy and toxicity suggests that certain medications commonly used in movement disorders should be discontinued before pregnancy, if possible. These medications include neuroleptics, amantadine, diazepam, primidone, selegiline, and reserpine. Pregnancy may unmask a pre-existing potential for chorea (i.e., chorea gravidarum) and frequently has a mild exacerbating effect on symptoms of PD; however, it has little effect on other movement disorders. Severe generalized dystonia would probably interfere with vaginal delivery, but the scant existing data suggest minimal effect of movement disorders on pregnancy, childbirth, and neonatal health.
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PMID:Pregnancy and movement disorders. 799 Jul 87

Reports of 62 cases with a movement disorder associated with a focal lesion in the thalamus and/or subthalamic region were analyzed. Thirty-three cases had a lesion confined to the thalamus. Sixteen cases had a thalamic lesion extending into the subthalamic region and/or midbrain. Thirteen cases had a lesion in the subthalamic region or a subthalamic lesion extending into the midbrain. Nineteen cases with dystonia, 18 with asterixis, 17 with ballism-chorea, three with paroxysmal dystonia, and five with clonic or myorhythmic movements have been described. No case with isolated tremor has been described. In 53 cases with unilateral thalamic or subthalamic lesions, all but one with bilateral blepharospasm (associated with right posterior thalamic, pontomesencephalic, and bilateral cerebellar lesions) had dyskinesias in the limbs contralateral to the lesion. The other nine cases had bilateral paramedian thalamic lesions; seven developed bilateral dyskinesias, and the remaining two had unilateral dyskinesias. Regarding the 19 patients with dystonia, the two with bilateral blepharospasm had thalamic and upper brainstem lesions, and one with hemidystonia and torticollis had a subthalamic lesion. The other 16 patients all had a unilateral thalamic lesion with contralateral dystonia (10 hemidystonia, five focal dystonia affecting a hand and/or and one segmental dystonia involving face, arm, and hand). The exact location of the thalamic lesion was mentioned in 10 cases; the posterior or posterolateral thalamus was involved in six and the paramedian thalamus in four. These areas are more posterior or medial to the ventrolateral and ventroanterior thalamic nuclei, which receive pallido-thalamic and nigro-thalamic afferents. Two cases developed dystonia immediately after thalamotomy, and one case developed it 4 days after head trauma. The others initially had a hemiplegia and developed dystonia 1-9 months after the acute insult. Fifteen of the 17 patients with chorea had a unilateral lesion in the subthalamic nucleus or subthalamic region (eight due to infarcts, one to hemorrhage, five to mass lesions, and one to multiple sclerosis). All had contralateral hemichorea or hemiballism. One other case had bilateral chorea of the hands and tongue due to paramedian thalamic infarction. Another case with generalized chorea and thalamic atrophy was complicated by stereotaxic surgery. Thirteen of the 18 cases with asterixis had lesions confined to the thalamus. Eight were associated with thalamotomy, and five others had a stroke (four infarction and one hemorrhage) affecting the contralateral thalamus.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Movement disorders following lesions of the thalamus or subthalamic region. 799 Aug 45

Fourteen patients with focal or segmental involuntary movements affecting the ears, back, shoulder girdle, and upper extremity, as well as the abdomen and pelvic girdle, are presented. The unusual locations and appearance of these dyskinesias distinguishes them from recognized movement disorder syndromes. It is argued that the slow, sinuous, and semirhythmic character of the movements and the variable long-duration bursts of motor unit activity responsible for them most closely fit into the spectrum of dystonia. A history of pain in the affected region and/or peripheral trauma in some cases also suggests that peripheral factors may play a role in their pathogenesis.
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PMID:Unusual focal dyskinesias: the ears, the shoulders, the back, and the abdomen. 799 Aug 48

Parkinsonism is an uncommon movement disorder in childhood. Six unusual cases of acquired parkinsonism in hospitalized children are described. Clinical manifestations included an akinetic-rigid syndrome with and without tremor, the combination of parkinsonism and dystonia, and a parkinsonism-plus syndrome. Altered mental status, mutism, dysphagia, and sialorrhea were frequent associations. Etiologies included hypoxic-ischemic encephalopathy; haloperidol treatment with and without neuroleptic malignant syndrome; toxicity of cytosine arabinoside, cyclophosphamide, amphotericin B, and methotrexate; St. Louis encephalitis and other encephalitides; and a pineal tumor with hydrocephalus. Cranial magnetic resonance imaging results ranged from normal to profound cerebral and cerebellar atrophy with chemotherapeutic toxicity. The illnesses usually were severe enough to require pharmacotherapy. Incorrect diagnoses of depression or catatonia delayed treatment or aggravated the problem. Acute treatment included amantadine, levodopa/carbidopa with or without selegiline, diphenhydramine, or benztropine. The concentration of CSF homovanillic acid was normal in a neuroleptic-associated patient, but the level was low in an encephalitic patient. All patients demonstrated dramatic improvement, including two who were not treated; some had complete resolution of symptoms and none required continued antiparkinsonian drugs despite poor scores on the Unified Parkinson's Disease Rating Scale and the Modified Hoehn and Yahr Rating Scales. The causes of parkinsonism described are more common in a general pediatric hospital than the parkinsonism associated with the popularized Segawa syndrome.
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PMID:Clinical spectrum of secondary parkinsonism in childhood: a reversible disorder. 802 61


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