Cases reported "Dystonia"

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1/32. Subacute onset of oculogyric crises and generalized dystonia following intranasal administration of heroin.

    A case is reported of a patient who experienced sudden onset of severe respiratory failure, shock and coma after first-time intranasal heroin abuse. During the following days full consciousness was restored, revealing persistent oculogyric crises, axial retropulsive dystonia and ataxia. Initially computer tomography (CT) scans of the brain were normal and cerebral spinal fluid examination showed a slight elevation of lactate. magnetic resonance imaging (MRI) scans of the brain demonstrated diffuse bilateral subcortical white matter hyperintensities, with sparing of the U-fibers, symmetric bilateral hyperintensities of the globus pallidum and very hyperintensive subcortical foci in the right hemisphere. Differential diagnostic assessment, treatment, clinical and MRI course of a 6-month follow-up are discussed.
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ranking = 1
keywords = ataxia
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2/32. Cerebellar ataxia, anterior horn cell disease, learning difficulties, and dystonia: a new syndrome.

    The following case reports describe a new condition of cerebellar ataxia, anterior horn cell disease, dystonia, and learning difficulties. Four cases are described. The condition appears to be of autosomal recessive inheritance as the group is made up of two pairs of sisters. All cases were evident by 3 years of age. Anterior horn cell disease was of a type not previously described at this age in association with cerebellar ataxia. Further genetic studies suggest the condition is not allelic with spinal muscular atrophy having no evidence of deletion of the survival motor neurone gene.
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ranking = 9.1824667162342
keywords = cerebellar ataxia, ataxia
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3/32. Cytochrome c oxidase partial deficiency-associated leigh disease presenting as an extrapyramidal syndrome.

    leigh disease is a subacute neurodegenerative disorder characterized by symmetric necrotic lesions in the basal ganglia, cerebellum, thalamus, brain stem, and optical nerves and caused by altered oxidative phosphorylation. We describe the clinical, biochemical, neuroimaging, and molecular studies of a 19-year-old boy with early-onset leigh disease manifesting as severe extrapyramidal disorder with generalized dystonia and choreoathetosis. He was born of healthy parents after an uneventful pregnancy and delivery. At the age of 2 1/2 years, after a minor respiratory infection, he developed unstable, broad-based gait and tremor of the hands. These symptoms persisted for the next several years, when ataxia became more prominent. Difficulty in swallowing, dysarthria, trunk dystonia, and marked dyskinesia of the arms and hands gradually developed. Nystagmus, transient ptosis, and strabismus also appeared. Abnormal laboratory findings included elevated plasma and cerebrospinal fluid lactate and pyruvate, with an abnormal lactate/pyruvate ratio. Cranial computed tomography and magnetic resonance imaging demonstrated signs of cerebellar atrophy, bilateral and symmetric hypodensities in the lentiform nucleus and thalamus, and transient hyperintensities of cerebral peduncles in T2-weighted sequences suggestive of leigh disease. Muscle biopsy revealed isolated fiber atrophy, necrotic fibers undergoing phagocytosis, and no ragged-red fibers. The measured catalytic activity of cytochrome c oxidase in skeletal muscle homogenates demonstrated a partial cytochrome c oxidase deficiency No abnormalities in the mitochondrial genome and in the SURF-1 gene were found. The boy is currently receiving levodopa therapy, creatine monohydrate, and a high dosage of thiamine and lipoic acid, his condition is stabilized, and extrapyramidal symptoms are less pronounced.
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ranking = 1
keywords = ataxia
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4/32. dystonia in spinocerebellar ataxia type 6.

    spinocerebellar ataxias are heterogeneous disorders with overlapping clinical features. Spinocerebellar ataxia-6 is a dominantly inherited condition characterized by relatively pure ataxia with a paucity of other manifestations including extrapyramidal findings. We report on two patients with genetically proven SCA-6 who had dystonia. One patient presented initially with dystonia, which remained the most disabling problem. dystonia may occur in SCA-6 and can be disabling.
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ranking = 16.547400148703
keywords = cerebellar ataxia, ataxia
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5/32. dystonia as presenting manifestation of ataxia telangiectasia : a case report.

    ataxia telangiectasia is a genetically inherited multisystem disorder with predominant feature being telangiectasia and cerebellar ataxia. In this report, a family of three siblings suffering from ataxia telangiectasia is described. The proband presented with dystonia and dystonic myoclonus, both of which are rare presenting features of ataxia telangiectasia.
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ranking = 8.5912333581171
keywords = cerebellar ataxia, ataxia
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6/32. Spinocerebellar ataxia type 3 presenting as an L-DOPA responsive dystonia phenotype in a Chinese family.

    The clinical spectrum of spinocerebellar ataxia 3 (SCA 3) disease is wide and varied. We describe a Chinese patient with a mutation at the SCA 3 locus with clinical features of levodopa-responsive dystonia. The family history was suggestive of being autosomally dominant. levodopa responsiveness though rare has been described in families with features of parkinsonism. Noteworthy is the relatively late onset of disease (>40 years) possibly explained by the low number of affected alleles at 59, the usual range being from 62 to 86, with the lowest recorded number at 56. This expands the wide and varied phenotypic manifestations of SCA 3, and highlights the observation that features suggestive of levodopa-responsive dystonia (DRD) such as focal dystonia, gait difficulty with diurnal fluctuation of symptoms, and a marked response to low doses of levodopa can be presenting features of SCA 3. SCA 3 should be considered a differential diagnosis in adult patients who present with DRD phenotype and with a positive family history.
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ranking = 12.956166790586
keywords = cerebellar ataxia, ataxia
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7/32. Ataxia with vitamin e deficiency and severe dystonia: report of a case.

    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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ranking = 2
keywords = ataxia
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8/32. Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation.

    A 14-year-old girl, homozygous for an insertion mutation of aprataxin (APTX), 689 ins T, is described. She presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. The dystonia of this patient suggests involvement of the basal ganglia or thalamus, along with clinical diversity in this disorder.
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ranking = 1
keywords = ataxia
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9/32. dystonia as a presenting sign of spinocerebellar ataxia type 1.

    We report on a 39-year-old man who presented initially with marked blepharospasm, oromandibular dystonia and retrocollis and one year later developed mild ataxia. Our findings suggest that dystonia can be a disabling presenting sign of SCA1 and support the clinical heterogeneity of SCA1, highlighting the importance of considering this entity in patients combining dystonia and cerebellar ataxia.
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ranking = 13.956166790586
keywords = cerebellar ataxia, ataxia
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10/32. dystonia induced by gabapentin.

    OBJECTIVE: To report a case of dystonia as an adverse effect of gabapentin. CASE SUMMARY: A 72-year-old woman was diagnosed with essential tremor and treated with propranolol 120 mg daily. The drug was withdrawn because of bradycardia, and gabapentin was prescribed 3 times a day at escalating doses to reach 2100 mg daily. The woman developed a dystonic reaction involving muscles of the neck and both arms that resolved rapidly after drug withdrawal. She was restarted on gabapentin with slow titration to 1800 mg daily, but the same dystonic reaction appeared, which led to definitive withdrawal of the drug. An objective causality assessment revealed that this adverse effect was highly probable. DISCUSSION: There have been only a few previous reports of gabapentin-induced dystonia. Other movement disorders reported with gabapentin include myoclonus, ataxia, and choreoathetosis. Gabapentin has been used to treat dystonias with variable results. CONCLUSIONS: Although gabapentin is widely used and well tolerated, it can cause dystonic reactions, which are reversible after drug withdrawal.
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ranking = 1
keywords = ataxia
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