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)

Since the detection of vitamin E in 1922, nearly 50 years passed until the recognition that there is a pathogenic vitamin E deficiency in humans. Such a deficiency can be found mostly in a disturbed resorption or transport of the vitamin (mucoviscidosis, chronic cholestasis, abetalipoproteinaemia) and leads typically to a progredient spinocerebellar ataxia in combination with a polyneuropathy. Substitution of the vitamin may hinder a further progression or even lead to an amelioration of the symptoms. Prophylactic treatment in abetalipoproteinaemia prevents the otherwise unavoidable neurological deficits. Isolated vitamin E deficiency is a rare syndrome and the causes are still obscure. We observed a 26 year old male patient with such a isolated vitamin E deficiency who was hitherto thought to suffer from Friedreich's ataxia. The clinical feature showed in addition to the "classical" symptoms of vitamin E deficiency cranial nerve involvement, perioral dystonia and pyramidal signs. Histologically (M. gastrocnemius) we saw the described typical but not specific changes (neurogenic atrophy, phosphatase-positive vacuoles with myelin bodies, cores). An oral vitamin E resorption test yielded a very shortened serum half life. These results support the hypothesis that in the pathophysiology of isolated vitamin E deficiency malelimination plays an important role in addition the known malresorptions models.
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PMID:[Isolated vitamin E deficiency]. 259

A 55-year-old woman with known retinitis pigmentosa for 25 years was progressively clumsy in gait and activities of daily living over the past 30 years. She was able to manage house work and social activities, but she developed swallowing disturbance associated with involuntary neck muscle spasm for 2 weeks, which brought her to our clinic on September 7, 1990. General physical examination was normal except for dry skin. Neurological examination was compatible with sensory-dominant polyneuropathy, showing distal dominant sensory impairment together with absent vibration sense and areflexia in lower limbs, but no gross muscular weakness. There were neck dystonia and bilateral poor visual acuity due to secondary optic atrophy of retinitis pigmentosa. The former responded to the combination of tiapride and trihexyphenidyl. She was admitted twice for further evaluation. Complete blood count and blood chemistry tests including lipids were all within normal limits, and so was cerebrospinal fluid. Pyruvate and lactate before and after exercise loading were also normal. Malignancy workup was negative. To our surprise, serum vitamin E level turned out very low (1.89 micrograms/ml), normal range being 4.7-20.3 micrograms/ml. Oral vitamin E administration test by 2g of alpha-tocopherol showed abnormal absorption curve followed fast clearance in serum. Stool was occasionally positive for fat corpuscles by Sudan III staining, but 99Tc-HSA leakage into the intestines was not detected.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A sporadic case of essential vitamin E deficiency manifested by sensory-dominant polyneuropathy and retinitis pigmentosa]. 782 14

Tardive dystonia is a disorder characterized by abnormally sustained posturing associated with the use of dopamine-receptor blocking agents such as antipsychotic drugs. However, the structural pathologic and pathophysiologic features of this disorder are unknown, and no consistently effective pharmacologic treatment is available. Patients with tardive dystonia mostly are young men. We present the case of one substantially improved with treatment by 1200 mg/d (IU) of vitamin E.
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PMID:Vitamin E treatment in tardive dystonia. 933 19

Although the new generation of atypical antipsychotic agents could some day eliminate concerns about tardive dyskinesia (TD), this disorder remains a significant clinical problem for both patients and physicians. Fortunately, many, if not most, cases of TD are mild. For patients with mild to moderate TD, therapeutic efforts are primarily directed at minimizing neuroleptic exposure or, when possible, changing to atypical agents. Most cases of TD do not seem to progress, suggesting that the risk of remaining on typical neuroleptics is probably small. Patients with moderate to severe forms of TD present greater challenges. These patients frequently require medication to suppress their dyskinesias. A variety of suppressive agents have been tried with limited success. No treatment strategy has emerged that is clearly superior or even successful in most patients. Increasing doses of typical neuroleptics may be useful for short-term suppression; however, the long-term efficacy and risk of this strategy have not been studied carefully. Data on atypical neuroleptics are scant. Clozapine's short-term suppressive effects seem, at best, weak, but patients may improve with long-term treatment. Medications with relatively few side effects that may have suppressive efficacy for some patients include calcium channel blockers, adrenergic antagonists, and vitamin E. Gamma-amino-butyric acid agonists agents and dopamine depleters are frequently useful, but have troubling side effects of their own. A variety of other medications have been employed, but are not well studied. For patients with tardive dystonia, anticholinergic agents or botulinum toxin has been particularly effective. Efforts to understand the neurobiology of TD may shed light on this persistent clinical conundrum.
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PMID:Treatment of tardive dyskinesia. 936 97

Tardive dyskinesia, tardive akathisia, and tardive dystonia are reviewed from a clinical perspective. The evaluation of each syndrome is discussed, and its clinical presentation and course are illustrated with case vignettes. Drugs used in the treatment of tardive dyskinesia are presented, with greater emphasis on the more recently introduced therapies such as clozapine and vitamin E. Although effective treatments remain elusive, neuroleptic-induced movement disorders can be managed satisfactorily in the majority of clinical situations. Algorithms are presented to outline treatment approaches for mild and moderate/severe tardive dyskinesia.
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PMID:The evaluation and treatment of neuroleptic-induced movement disorders. 938 40

Ataxia with vitamin E deficiency (AVED), or familial isolated vitamin E deficiency, is a rare autosomal recessive neurodegenerative disease characterized clinically by symptoms with often striking resemblance to those of Friedreich ataxia. We recently have demonstrated that AVED is caused by mutations in the gene for alpha-tocopherol transfer protein (alpha-TTP). We now have identified a total of 13 mutations in 27 families. Four mutations were found in >=2 independent families: 744delA, which is the major mutation in North Africa, and 513insTT, 486delT, and R134X, in families of European origin. Compilation of the clinical records of 43 patients with documented mutation in the alpha-TTP gene revealed differences from Friedreich ataxia: cardiomyopathy was found in only 19% of cases, whereas head titubation was found in 28% of cases and dystonia in an additional 13%. This study represents the largest group of patients and mutations reported for this often misdiagnosed disease and points to the need for an early differential diagnosis with Friedreich ataxia, in order to initiate therapeutic and prophylactic vitamin E supplementation before irreversible damage develops.
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PMID:Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 946 7

Antipsychotic-induced tardive dyskinesia is a common and clinically significant hazard of long term antipsychotic therapy. The arrival of atypical antipsychotics has markedly improved the outlook: atypical antipsychotics are emerging as effective treatments and may also reduce the prevalence and incidence of tardive dyskinesia. In mild cases, careful monitoring of tardive dyskinesia by serial Abnormal Involuntary Movements Scale (AIMS) assessments may be the appropriate course. More severe tardive dyskinesia calls for intervention in order to treat the dyskinesia. Atypical antipsychotics and tocopherol (vitamin E) are effective and generally well tolerated treatment options for tardive dyskinesia. Tardive dyskinesia variants such as tardive dystonia and tardive akathisia tend to be more severe and difficult to treat compared with typical tardive dyskinesia. Prevention of tardive dyskinesia is possible through careful selection of patients for antipsychotic therapy, use of the lowest effective antipsychotic dosages, use of atypical rather than traditional antipsychotics and concurrent tocopherol administration. The clinician can now undertake the management of tardive dyskinesia with growing confidence.
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PMID:Managing antipsychotic-induced tardive dyskinesia. 1008 74

Although there are many published studies on the treatment of tardive dyskinesia (TD), relatively few treatments have proven to be consistently useful in clinical practice. Reviewed critically, most treatments have produced only slight to moderate benefit in less than half the patients treated. Emphasis instead is on prevention, prompt detection, and management of early and potentially reversible cases. If a patient develops dyskinesia while taking an antipsychotic drug (APD), ideal management is immediate discontinuation of the APD, if this is psychiatrically feasible. The manifestations of TD should be documented and the patient examined to exclude other possible causes of dyskinesia. APDs should then be withheld in the hope that the dyskinesia will disappear. Although the dyskinesia may fade within several weeks, it has the potential to recur if APD treatment is reintroduced. Psychiatric reevaluation to consider alternative psychiatric diagnoses or treatments is strongly advised. If there is no alternative to reintroducing an APD for psychiatric treatment, then an atypical neuroleptic should be considered. Because dyskinesia is very often not disturbing enough to require treatment, the need for treatment of TD should be carefully assessed. For mild dyskinesia, low doses of a benzodiazepine (eg, clonazepam) may reduce the amount of both dyskinesia and associated anxiety. Anticholinergic drugs are unhelpful and may aggravate TD but, similar to their effect in idiopathic dystonia, may be effective in tardive dystonia. Botulinum toxin injections are of considerable value in managing localized forms of tardive dystonia, such as retrocollis or blepharospasm. Tetrabenazine and reserpine are presynaptic dopamine depletors that may have considerable efficacy in TD, especially tardive dystonia; however, their use is often limited by side effects. Based on the rationale that TD may be due to formation of free radicals, vitamin E has been used for treatment of TD, with mixed results. In some patients with persistent and disabling TD that fails to remit even after the patient is no longer taking an APD, it may be necessary to resume treatment eventually with a typical APD. This approach should be considered only as a last resort to suppress TD, however, because it carries the risk of preventing remission and possibly aggravating TD. In this case, further attempts to taper and discontinue the APD are recommended. At present, there is no evidence that established TD continues to progress in severity with continued APD exposure. This nonprogressive character of TD may provide to be a consolation to the patient and family and is also of potential medical-legal importance.
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PMID:Tardive Dyskinesia. 1109 48

Mutation of the gene for alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency, a disorder usually stabilized or improved after vitamin E supplementation. Dystonia has rarely been described in ataxia with isolated vitamin E deficiency (AVED) patients. We present the case of a young boy with AVED, whose neurological and extra-neurological cardinal symptoms of the disease improved after vitamin E supplementation but who progressively developed generalized dystonia.
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PMID:Ataxia with vitamin E deficiency and severe dystonia: report of a case. 1290 80

The important role of equilibrium of environmental factors during the embryo-fetal period is undisputable. Women of reproductive age are increasingly exposed to various environmental risk factors such as hypoxia, prenatal viral infections, use of drugs, smoking, complications of birth or stressful life events. These early hazards represent an important risk for structural and/or functional maldevelopment of the fetus and neonates. Impairment of oxygen/energy supply during the pre- and perinatal period may affect neuronal functions and induce cell death. Thus when death of the newborn is not occurring following intrauterine hypoxia, various neurological deficits, including hyperactivity, learning disabilities, mental retardation, epilepsy, cerebral palsy, dystonia etc., may develop both in humans and in experimental animals. In our animal studies we used several approaches for modeling hypoxia in rats during pregnancy and shortly after delivery, i.e. chronic intrauterine hypoxia induced by the antiepileptic drug phenytoin, neonatal anoxia by decreased oxygen saturation in 2-day-old pups. Using these models we were able to test potential protective properties of natural (vitamin E, melatonin) and synthetic (stobadine) compounds. Based on our results, stobadine was also able to reduce hypoxia-induced hyperactivity and the antioxidant capacity of stobadine exceeded that of vitamin E and melatonin, and contrary to vitamin E, stobadine had no adverse effects on developing fetus and offspring.
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PMID:Experimental modeling of hypoxia in pregnancy and early postnatal life. 2121 42


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