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)

A follow-up (1985, 1990, 1991) study revealed in female workers of hydroponic hothouses an increase of the incidence of nervous system diseases depending on the length of work (vegeto-vascular dystonia, angiodystonic syndromes, vegeto-sensory polyneuropathy). It is suggested that the main cause of nervous lesions in these cases was the complex effect of pesticides.
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PMID:[Nervous system lesions in the female workers of hydroponic hothouses]. 148 20

According to the authors' observations, the symptoms of nervous system derangement associated with legionnaires' disease rather often enter the disease structure and can virtually be characterized as a manifestation of infectious and toxic encephalopathy and polyneuropathy (encephalopolyneuropathy). In the majority of cases, the neurological disorders develop acutely or subacutely after or simultaneously with respiratory lesions. The clinical picture of encephalopathy is marked by permanent headache, mental abnormalities, memory disturbances, insomnia, pronounced astheno-vegetative and vascular manifestations. In patients with legionellosis, polyneuropathy is manifested by paresthesias, less frequently by pains in the distal parts of the limbs and myasthenia without visible atrophies. Vegetative disorders such as vegetative polyneuropathy of the hands and legs, visceral polyneuropathies are typical symptoms of the disease whatever its gravity. Vegetovascular dystonia together with long-term AP instability is an obligate sign of the disease. Electrophysiological examinations (EEG, REG, EMG) support the clinical findings and may serve the basis for an objective evaluation of the gravity of the neurological disorders. The degree of pulmonary lesions and the intensity of vegetative disorders eventually determine the torpidity and characteristics of the disease course.
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PMID:[Nervous system involvement in legionellosis (legionnaires' disease)]. 164 36

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

The article contains results of clinical studies of dimethylsulfoxide (DMSO) therapeutic application at vibration disease (VD) cases caused by local vibration and in comparison with the generally accepted complex therapy. 30% DMSO water solution skin compresses were used applied to the affected zones of the upper extremities for 1-1.5 hours daily with 12-15 procedures in the whole course. It was established that DMSO effects are positive in most VB manifestations: regional angiodystonia, sensor and vegetative--sensor polyneuropathy, arthroses, and particularly in cases of muscle dystonia and myodistrophy, humeroscapular periarthrosis. This kind of technique simplifies VD therapy as it excludes physiotherapy procedures and limits medication to a great extent, doing with no drugs at all in some cases. Treatment costs and clinical course duration are also lowered.
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PMID:[Dimethyl sulfoxide in the therapy of vibration disease]. 261 22

Muscle tonus in patients with rheumatoid arthritis (RA) was collated with the activity of the pathological process and functional articular insufficiency (FAI) in different variants of polyneuropathy (P). Hetero- or unidirectional hypotension of muscles was the most characteristic sign in RA. In cases of the sensory variant of P, patients with an early period of the disease and 1-0 degree FAI showed severe damage to the central motor neuron, linked with a dissociated type of muscular dystonia (predominantly hypotension of the flexory group of legs) and a peculiar dystonic phenomenon (a vestibular-cerebellar positioning of the wrist). This kind of wrist positioning was directly correlated with the side of the predominant damage to the central motor neuron. In cases of sensory-motor forms of P, patients with degree II-III FAI, in whom lesions to the peripheral motor neuron were predominant, developed unidirectional muscle hypotension. EMG findings served as an adequate reflection of the nature of changes in the muscle tonus.
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PMID:[Status of muscle tone in rheumatoid arthritis patients]. 302 17

Increasing numbers of patients are being recognized with neurological abnormalities associated with the immunochemical changes of plasma cell disease. To illustrate the wide spectrum of clinical disorders that can be found, I discuss in detail 5 patients: 2 with neuropathy, 3 with amyotrophic lateral sclerosis (ALS), all of whom had serum monoclonal paraproteinemia. In addition, I report in tabular form 6 patients with paraproteinemia and the following clinical presentations: 1) systemic lupus with polyneuropathy and severe cerebritis, 2) myasthenia gravis with thymoma, 3) polymyositis, 4) polymyositis, arthritis and Grave's disease, 5) relapsing polyneuritis (one of the original patients diagnosed by Austin) and 6) ALS, dystonia and parkinsonism. Major improvements in clinical condition occurred sometimes, but not always, coincident with reductions in the levels of the paraprotein using prednisone, cyclophosphamide, chlorambucil and plasma exchange treatments even in some of the patients who had the clinical appearance of ALS. Patients with neuromuscular diseases should be routinely screened with serum immunoelectrophoresis for monoclonal gammopathy. If a monoclonal gammopathy is found and if the disease is serious, then those patients should be treated as if they had an autoimmune disorder.
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PMID:Neuropathy and motor neuron syndromes associated with plasma cell disease. 647 86

We have examined 138 cases of a disorder previously described in people of Portuguese origin and which has received many names. By computer analysis of 46 different items of a standardized neurological examination carried out in each patient, we have been able to delineate the main components of the clinical presentation, to conclude that the marked variability in clinical expressions does not negate the homogeneity of the disorder, and to describe the natural history of this entity which should be called, for historical reasons, "Machado-Joseph Disease". This hereditary disease has an autosomal dominant pattern of inheritance, presenting as a progressive ataxia with external ophthalmoplegia, and should be classified within the group of "Ataxic multisystem degenerations". When the disease starts before the age of 20, it may present with marked spasticity, of a non progressive nature but often so severe that it can be accompanied by "Gegenhalten" countermovements and dystonic postures but little frank dystonia. There are few true extrapyramidal symptoms except akinesia. When the disease starts after the age of 50, the clinical spectrum is mostly that of an amyotrophic polyneuropathy with fasciculations accompanying the ataxia. For all the other cases the clinical picture is a continuum between these two extremes, the main determinant of the clinical phenotype being the age of onset and a secondary factor, the place of origin of the given kindred. The ataxic and amyotrophic components are clearly progressive with time in contrast to the spasticity component. Although the majority of known cases are of Portuguese origin, this is not obligatory. The next research endeavour should be a search for the chromosomal site of the gene, using molecular biology technology such as those for recombinant DNA.
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PMID:The natural history of Machado-Joseph disease. An analysis of 138 personally examined cases. 650 98

We describe a male patient with late onset globoid cell leukodystrophy (GLD) (Krabbe's disease) still alive at 24 years of age, with a well preserved intellectual and communicative capacity, in contrast to visual failure and severe central pyramidal and extrapyramidal motor disability with spasticity, dystonia, ataxia and peripheral neuropathy. Visual dysfunction began at 4 years of age, limping and balance problems at 8 years and epilepsy at 14 years of age. Neuroimaging at 15 years of age revealed white matter lesions, and nerve conduction velocity examinations showed a slowly developing polyneuropathy. Galactosylceramidase activity was reduced in leukocytes to 0.07 mu kat/kg protein compared with 0.02 (SD 0.01) mu kat/kg protein in infantile GLD.
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PMID:Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up. 775 15

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

This 44-year woman was admitted for weight loss and global intellectual slowing. She had mild chronic alcoholic neuropathy. She was discontinued alcoholic consumption for 6 months and was given disulfiram (1.5 g/day) since then. She developed over a 5-day period acute neuropathy, confusion and extrapyramidal symptoms with oculo-cephalogyric and dystonic movements and myoclonus. Electromyography revealed a severe polyneuropathy. After disulfiram withdrawal, confusion and extrapyramidal symptoms disappeared within a few days, but sensitivo-motor deficit improved more slowly. Nerve biopsy was suggestive of a pure axonal neuropathy.
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PMID:[Acute and reversible myoclonic encephalopathy, extrapyramidal syndrome, polyneuropathy caused by chronic disulfiram poisoning]. 874 31


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