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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the clinical and laboratory findings in 2 siblings with a syndrome of pigmentary retinopathy, blepharospasm, and dystonia. This entity most resembles Hallervorden-Spatz disease, but appears to be a distinct disorder without identifiable neuroimaging or biochemical abnormalities.
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PMID:A familial syndrome of dystonia, blepharospasm, and pigmentary retinopathy. 239 18

The case of a female patient with infantile onset of progressive dystonia, disturbance of gait and dysarthria is presented. At age 7, the diagnosis of Hallervorden-Spatz disease was established by clinical findings including retinal pigment degeneration, basal ganglia hyperdensity on CT, and the rare association of acanthocytosis. The clinical course was followed over 15 years until the patient's death.
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PMID:[Hallervorden-Spatz syndrome with acanthocytosis]. 281 85

The case of an 11-year-old female with the clinical findings of Hallervorden-Spatz syndrome, including progressive dystonia, dysarthria, disturbances of gait, and retinal pigmentary degeneration, is presented. The differential diagnosis of childhood dystonia and retinal pigmentary degeneration associated with neurological conditions is discussed. The presence of basal ganglia densities on computed tomography scanning in this patient may aid in future premortem diagnosis of this rare disease.
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PMID:New computed tomography scan finding in Hallervorden-Spatz syndrome. 294 75

Two women with a presumptive diagnosis of Hallervorden-Spatz syndrome had a combination of dystonia and parkinsonism. One had retinitis pigmentosa. Neuropsychological testing revealed decreased verbal fluency and visuoconstructional and motor deficits. Magnetic resonance imaging performed with a high-field-strength unit (1.5 Tesla) showed striking abnormalities in the globus pallidus bilaterally ("eye-of-the-tiger" sign). Magnetic resonance imaging may prove useful in the diagnosis of Hallervorden-Spatz syndrome.
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PMID:Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations. 320 17

We studied a patient with autopsy-proven Hallervorden-Spatz syndrome (HSS) and the previously unreported finding of high-density lesions in the basal ganglia on CT. The diagnosis of HSS should be considered in a patient with dystonia and basal ganglia mineralization on CT.
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PMID:Mineralization of the basal ganglia detected by CT in Hallervorden-Spatz syndrome. 333 50

We studied a 68-year-old man who died after 13 years of progressive dementia, rigidity, bradykinesia, mild tremor, stooped posture, slow and shuffling gait, dystonia, blepharospasm, apraxia of eyelid opening, anarthria, aphonia, and incontinence. At autopsy, he had generalized brain atrophy with large deposits of iron pigment in the globus pallidus, caudate, and substantia nigra. Axonal spheroids were found in the globus pallidus, substantia nigra, medulla, and spinal cord. The neurochemical analysis of the brain revealed marked loss of dopamine in the nigral-striatal areas, with relative preservation of dopamine in the limbic areas. This is the oldest case of familial Hallervorden-Spatz disease reported and the first with neurochemical analysis of the brain.
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PMID:Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism. 396 11

Dystonia musculorum deformans is a descriptive diagnosis. A number of other conditions such as Hallervorden-Spatz disease and juvenile paralysis agitans have to be excluded. Then the history of a child's illness may suggest a particular syndrome such as the progressive dystonia with marked diurnal fluctuations. Two case reports are given of children who show fluctuation of symptoms but their histories varied from those previously described. Problems of treatment are discussed and it is suggested that fluctuation of symptoms may indicate a response to levadopa while those with a relentless progression of symptoms may respond to other drugs such as orphenadrine.
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PMID:Fluctuating dystonia and allied syndromes. 713 34

The authors present the MRI findings of two children with insidious walking difficulties, signs of corticospinal tract involvement, and signs and symptoms of extrapyramidal dysfunction such as rigidity and generalized dystonia, the latter with predominance of oromandibular involvement. In one child, MRI revealed prominent hypo-intensity in the globus pallidus and in the substantia nigra on T2-weighted spin echo images, consistent with iron deposition and thus with previous post-mortem findings of Hallervorden-Spatz disease. In the other case, the hypo-intensity was restricted to the globus pallidus, in which a small area of hyperintensity in its internal segment was demonstrated--the so called 'eye-of-the-tiger' sign. The authors propose that a combination of previously mentioned neurological signs with these specific MRI findings is highly suggestive of an in vivo diagnosis of the late infantile type of HSD.
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PMID:In vivo diagnosis of Hallervorden-Spatz disease. 864 44

We describe an example of a variant of Hallervorden-Spatz disease, characterized by hypoprebeta-lipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration (HARP syndrome), in an 18-year-old woman who presented with longstanding intellectual subnormality, night blindness, and a 2-year history of orobuccolingual dystonia causing dysarthria and dysphagia. Investigation showed acanthocytosis and hypoprebetalipoproteinemia, and electroretinograms were typical of tapetoretinal degeneration. T2-weighted MRI showed decreased signal intensity in the pallidal nuclei with central hyperintensity, constituting the "eye-of-the-tiger" sign. The patient's sister and mother have a similar lipid disorder but no retinal or neurologic disease. We also report two patients with clinical and radiologic features similar to those of the patient with HARP syndrome but who had normal lipid studies. These various combinations of components of HARP syndrome may be caused by several distinct genetic diseases or may represent variable manifestations of a contiguous gene defect.
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PMID:Acanthocytosis, retinitis pigmentosa, and pallidal degeneration: a report of three patients, including the second reported case with hypoprebetalipoproteinemia (HARP syndrome). 789 2

Hallervorden-Spatz syndrome is generally considered to be an autosomal recessively hereditary disorder of unknown etiology. Some reported cases have been known to be sporadic. We present a boy who suffered from regressive developmental milestones since he was 2 years and 6 months old. He began to manifest tremors of the upper extremities, followed by unsteady gait, choreoathetosis, dystonia, dysarthria, and dysphagia at 4 years old, and subsequently became completely bedridden at 6 years old. Neurologically, opisthotonus, rigidity of extremities, dystonia, hyperreflexia, profound emaciation, and bilaterally positive Babinski signs were present. The brain magnetic resonance imaging (MRI) done at the age of 8 years revealed symmetrical low signal intensity over the bilateral globus pallidi in the T2-weighted images coexistent with an area of high signal intensity over the anteromedial portion, known as "eye of the tiger" sign. Another MRI, followed up two years later, did not show marked difference in signal abnormalities over the globus pallidi in the T2-weighted images as compared with that of the previous one. However, progressive neurological deterioration existed.
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PMID:Clinical and MRI study of the Hallervorden-Spatz syndrome: long-term follow-up of one case. 794 31


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