‘Pyruvate dehydrogenase deficiency presenting as dystonia and responding to levodopa’

Neubauer, David; Frelih, Jana; Župančič, N.; Kopač, Štefan; Cindro-Heberle, Lada

doi:10.1111/j.1469-8749.2005.tb01181.x

Cited by 4 publications

(3 citation statements)

References 2 publications

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“…It can provide benefit for some patients with DYT1 dystonia [5,6], and isolated case reports have described response of various forms of secondary dystonia to levodopa treatment [7][8][9][10]. A trial of levodopa treatment should therefore be considered for non-DRD primary and secondary dystonia.…”

Section: Levodopamentioning

confidence: 99%

Treatment of Generalized Dystonia

Lubarr

Bressman

2011

Curr Treat Options Neurol

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The armamentarium for clinicians treating patients with generalized dystonia, previously restricted to only a few oral medications that often caused intolerable side effects, has been radically expanded in the past decade with the widespread application of deep brain stimulation (DBS). With DBS, patients who in the past would have been restricted to a life of severe motor disability from a young age can now lead lives with only minimal symptoms. Although DBS should therefore be considered as a treatment option for any patient with severe, medically refractory dystonia, important questions remain about patient selection, including what factors predict which patients will benefit from DBS, and when in the course of disease DBS should be performed. Reports show that patients with primary dystonia respond better than those with secondary dystonia, and limb and axial muscles may improve more than cranial dystonia. Some studies also suggest that shorter duration of disease may be associated with better outcomes. However, it is important to note that even among those thought to respond best to DBS, i.e. patients with primary generalized dystonia, there is a subset that will have significant and sustained clinical benefit with oral medications. It is therefore important that adequate trials of oral medications be attempted prior to referral for surgery. On the other hand, once it is clear that medical therapies are not providing significant benefit or are not well tolerated, children with disabling generalized primary dystonia should be referred quickly for DBS. The dramatic clinical improvement that can be seen with DBS can restore normal or near-normal functioning and avoid the physical and emotional costs of an extended period of decreased physical and social functioning. In general, a levodopa trial should always be considered as the first treatment at the time of presentation of any patient with childhood-onset limb dystonia, in order to exclude dopa-responsive dystonia. Once a diagnosis of primary generalized dystonia is established, we typically initiate treatment with trihexyphenidyl, titrating slowly up to a high dose. We then frequently add baclofen as a second agent. If clinical improvement at that point is inadequate and the dystonia is causing significant functional impairment, we then consider referral for DBS.

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Section: Levodopamentioning

confidence: 99%

Treatment of Generalized Dystonia

Lubarr

Bressman

2011

Curr Treat Options Neurol

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“…Data are similarly lacking regarding the question of efficacy of levodopa for treatment of non‐DRD forms of dystonia. Levodopa has been reported to provide benefit in some patients with DYT1 dystonia,282, 283 and isolated case reports have described good responses to levodopa in various forms of secondary dystonia284–287; its use in these forms of dystonia thus warrants further investigation.…”

Section: Therapymentioning

confidence: 99%

Deleterious Effects of Beta-Blockers on Survival in Patients With Cirrhosis and Refractory Ascites†,‡

Mélot²,

et al. 2010

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Beta-blockers may have a negative impact on survival in patients with cirrhosis and refractory ascites. The aim of this study was to evaluate the effect of the administration of betablockers on long-term survival in patients with cirrhosis and refractory ascites. We performed a single-center, observational, case-only, prospective study of patients with cirrhosis and refractory ascites who did or did not receive beta-blockers for the prevention of gastrointestinal bleeding; 151 patients were included. The mean Model for End-Stage Liver Disease score was 18.8 6 4.1. All patients regularly underwent large-volume paracentesis and intravenous albumin administration. Seventy-seven patients (51%) were treated with propranolol (113 6 46 mg/day). The median follow-up for the whole group was 8 months. The median survival time was 10 months [95% confidence interval (CI) 5 8-12 months]. The probability of survival at 1 year was 41% (95% CI 5 33%-49%). The clinical characteristics and laboratory values at enrolment were not significantly different between patients who were receiving propranolol and those who were not. The median survival time was 20.0 months (95% CI 5 4.8-35.2 months) in patients not treated with propranolol and 5.0 months (95% CI 5 3.5-6.5 months) in those treated with propranolol (P 5 0.0001). The 1-year probability of survival was significantly lower in patients who received propranolol [19% (95% CI 5 9%-29%)] versus those who did not [64% (95% CI 5 52%-76%), P < 0.0001]. The independent variables of mortality were Child-Pugh class C, hyponatremia and renal failure as causes of refractory ascites, and beta-blocker therapy. Conclusion: The use of beta-blockers is associated with poor survival in patients with refractory ascites. These results suggest that betablockers should be contraindicated in these patients.

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“…In the pediatric population, only 2 disorders causing secondary dystonia responsive to levodopa have been reported: methylmalonic aciduria 2 and pyruvate dehydrogenase deficiency. 3,4 Shimoizumi et al 2 reported a 10-year-old girl with methylmalonic aciduria and bilateral lesions of the globus pallidus causing dystonia responsive to levodopa. Other authors reported 2 patients with pyruvate dehydrogenase deficiency, a boy and a girl presenting with paroxysmal episodes of dystonia.…”

Section: Discussionmentioning

confidence: 99%

A Case of Secondary Dystonia Responding to Levodopa

2009

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The authors report a patient with dystonia secondary to bilateral lesions of the basal ganglia, who improved dramatically with levodopa. The patient presented at the age of 4 years with progressive dystonia of the lower extremities and right upper extremity. Magnetic resonance imaging (MRI) of the brain showed bilateral hyperintensities of the globus pallidus that remained stable over the years. Despite extensive investigations, the etiology of her basal ganglia lesions remained nebulous. The patient's dystonia responded to Trihexyphenidyl and to tetrabenazine, but these medications needed to be stopped because of side effects. At the age of 12 years, small doses of levodopa-carbidopa were tried and resulted in dramatic improvement of her dystonia. The authors believe that in the pediatric population with secondary dystonias other than Segawa disease, even though this has been reported only rarely to be effective, a therapeutic trial with levodopa should be considered in some instances.

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‘Pyruvate dehydrogenase deficiency presenting as dystonia and responding to levodopa’

Cited by 4 publications

References 2 publications

Treatment of Generalized Dystonia

Treatment of Generalized Dystonia

Deleterious Effects of Beta-Blockers on Survival in Patients With Cirrhosis and Refractory Ascites†,‡

A Case of Secondary Dystonia Responding to Levodopa

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