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

A large kindred, in which either Leber's hereditary optic atrophy, or a hereditary spastic dystonia, or a combination of both manifested over many generations was restudied after the first report on it in 1964. NMR scans revealed bilateral, and, in two patients with hemidystonia, unilateral necrosis with shrinkage of the putamen, in one case associated with total disappearance of the head of the caudate nucleus. Except for age-appropriate cortical atrophy in one instance, no other changes were observed in the brain, brainstem, and cerebellum. The putaminal necrosis appears as typical "striatal slits" on the NMR scans. It is argued that this rare disease, since the princeps description in 1964 only reported in England (1986) and the U.S.A (1986), is most likely a singular type of mitochondrial encephalopathy: it is associated with Leber's optic atrophy, and the NMR changes observed have been signalled in other mitochondrial encephalomyelopathies, such as Leigh's disease and MELAS.
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PMID:Hereditary spastic dystonia: a new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic sign. 188 May 38

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

Hereditary progressive dystonia or Segawa disease is a very rare disease. Diagnosis depends on typical clinical features with remarkably good response to levodopa and normal laboratory findings. Here, we report on a unique case of Segawa disease with a fixed equinovarus foot. The patient was a twenty one year old female with the typical clinical manifestations since eight years of age who became wheel-chair dependent at the age of fifteen. The dystonia responded well to levodopa except for the foot deformities. The foot deformities were successfully corrected by use of the Ilizarov apparatus and she ambulated freely at follow up. Since several similar foot deformities appeared in the early stage of a progressive neurological degenerative disease, the treatable Segawa disease should be added to the differential diagnosis when facing a patient with pes equinovarus.
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PMID:Successful treatment of hereditary progressive dystonia--a case report. 785 Jun 53

Dystonia has moved from the status of a rare disease or an uncommon clinical manifestation to the center stage of research in movement disorders. Recent developments have expanded our knowledge of the genetics and understanding of its pathophysiology, and have resulted in significant improvements in the clinical management of this group of disorders. These, as well as the varied and multifaceted phenomenology are reviewed.
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PMID:Dystonia. 850 5

Corticobasal degeneration (CBD) is not rare disease, because in our clinic 13 patients were observed for the past 8 years, with ratio to those with Parkinson's disease being 1:18. Our clinical criteria of this disease consist of the combination of 1) limb-kinetic apraxia as cortical sign, 2) akinetic-rigid sign as extrapyramidal sign, 3) their marked asymmetry, and as additional findings, 4) the presence of grasp reflex, alien hand sign, reflex myoclonus, limb dystonia, and others, and 5) neuroimagings (MRI, SPECT) suggestive of asymmetric cortical lesions. There are reports indicating that clinical CBD was diagnosed as Pick's disease, progressive supranuclear palsy and Alzheimer's disease, pathologically. Therefore, more basic investigations, especially from molecular biology are necessary to discriminate these corticobasal complex disorders.
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PMID:[Cortico-basal degeneration]. 901 38

Dystonia is a rare disease of childhood, often leading to devastating functional impairment. Medical treatment is reviewed, although its efficacy is often limited. Recent advances in functional neurosurgery have opened up a new field in the management of dystonic patients, and the results of deep brain stimulation are given particular emphasis.
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PMID:Treatment of early-onset dystonia: update and a new perspective. 1093 28

Neuroferritinopathy is a recently recognised genetic disease resulting in a dominantly inherited movement disorder. The condition was mapped by linkage analysis to chromosome 19q13.3 and found to be due to a single adenine insertion in the ferritin light chain (FTL) gene at position 460-461 which is predicted to alter the C terminus of the FTL polypeptide. Clinical features of neuroferritinopathy are highly variable, with chorea, dystonia, and Parkinsonian features predominating in different affected individuals. The most consistent feature is a dystonic dysarthria. Symptoms and abnormal physical signs appear to be restricted to the nervous system and onset is typically in the fourth to sixth decades. Low serum ferritin also characterises this condition. Brain MR imaging of affected patients demonstrates iron deposition in the basal ganglia, progressing over years to cystic degeneration, and brain histochemistry shows abnormal aggregates of ferritin and iron. Now that the molecular basis of the condition is known, therapeutic interventions to reduce or reverse brain iron deposition are being evaluated. This rare disease provides evidence of a central role for iron metabolism in neurodegenerative disorders.
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PMID:Neuroferritinopathy: a window on the role of iron in neurodegeneration. 1254 46

The authors report a case of atrophy of the globus pallidus in a woman aged 25 years, diagnosed alive. The diagnosis was based to a large extent on MRI findings. Atrophy of the globus pallidus (AGP) is a rare disease, recognized mostly in neuropathological examination. Its etiopathogenesis has not been explained so far. Since no specific abnormalities have been detected in laboratory tests, the clinical diagnosis of AGP is only probable. However, AGP should be suspected if such extrapyramidal symptoms are present as dystonia, choreoathetosis, muscular rigidity, and characteristic localisation of lesions in MRI. At present only comprehensive symptomatic treatment is possible.
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PMID:[Progressive atrophy of the globus pallidus--case report]. 1517 41

Two siblings from a Hong Kong Chinese family are diagnosed to have heterozygous mutation in tyrosine hydroxylase gene-a novel mutation R169X and the common Dutch mutation R233H. Presented with developmental delay and dystonia before 6 months of age, both had hyperprolactinemia with persistent galactorrhea present in the elder brother since birth. Serum prolactin level is a good screening test for those suspected of underlying neurotransmitter diseases. To our knowledge, this is the first Chinese family diagnosed with such condition. Clinicians must be aware of this rare disease especially in those unexplained 'cerebral palsy' like children.
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PMID:Galactorrhea-a strong clinical clue towards the diagnosis of neurotransmitter disease. 1637 43

Primary writing tremor (PWT) is a rare disease of unknown pathophysiology. We studied changes in silent period (SP) duration, after transcranial magnetic stimulation (TMS), set at 20% above the motor threshold in 6 PWT patients and 7 healthy control subjects. SP duration was tested during a task-specific act, i.e., writing that induced tremor in all patients in the affected hand (Wr); nonspecific voluntary contraction of intensity, matching that developed during writing (VCWr); and during near maximal voluntary contraction (VCNmax). There were no differences in SP duration during Wr and VCWr contraction on the right affected side or between sides in both PWT patients and control subjects, nor between the groups. However, during VCNmax, SP significantly shortened on both sides in PWT patients, whereas there were no changes in control subjects. Although it appears that inhibitory mechanism are not directly involved in the generation of the tremulous activity, the shortening of SP indicates that central inhibitory mechanisms are affected in PWT patients. Therefore, whereas the underlying pathophysiological mechanisms in PWT and writer's cramp may share common features, the results indicate that PWT is not a variant of focal task-specific dystonia but rather a separate nosological entity.
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PMID:Changes in cortical inhibition during task-specific contractions in primary writing tremor patients. 1648 35


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