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)

An unusual neurovisceral lipid storage disorder in two unrelated juvenile patients manifested itself by dystonia and involuntary movements, with facial grimacing, dysarthria, gait difficulty, and impaired manual dexterity. Supranuclear paresis of vertical gaze and splenomegaly were present. Absent were seizures, major intellectual deterioration, spasticity, or blindness. Histiocytes showed lysosomal storage of various phospholipids, cholesterol, neutral lipids, and autofluorescent material. Appendiceal neurons showed only an increse of phospholipids by histochemistry. Neuronal deposits differed ultrastructurally from these in histiocytes. Leukocyte sphingomyelinase activity was normal. The nosology of this disease and its relationship to so-called juvenile types of Niemann-Pick disease is discussed. The primary metabolic defect in these patients remains unknown.
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PMID:Juvenile dystonic lipidosis: an unusual form of neurovisceral storage disease. 18 51

Blepharospasm is a cranial dystonia characterized by forceful spasms of the orbicularis oculi muscle which may lead to functional blindness in approximately two-thirds of patients. Botulinum toxin injection is a simple procedure, very effective and with little morbidity. It is considered as the treatment of choice for patients with disabling blepharospasm.
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PMID:[Treatment with botulinum toxin in blepharospasm]. 180 34

Blepharospasm is a cranial dystonia characterized by forceful spasms of the orbicularis oculi muscle which may lead to functional blindness in approximately two-thirds of patients. Botulinum toxin injections is a simple procedure, very effective and with little morbidity. It is considered as the treatment of choice for patients with disabling blepharospasm.
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PMID:[Treatment with botulinum toxin in blepharospasm]. 181 Feb 7

Blepharospasm is a relatively frequent cranial dystonia which may be seen either alone or related to orofacial-mandibular dystonia (Meige's syndrome). In its maximum degree it can cause functional blindness.Twelve patients with blepharospasm (4 essential and 8 Meige's syndrome) who had been previously treated unsuccessfully with drugs (trihexyphenidyl, biperiden, carbamazepine, lithium, baclofen, lisuride, imipramine, clonazepam and butyrophenones) were treated for 12 months with periocular injections of botulinum toxin (BOTOX). A "low" dose of 12,5 U per eye was employed. With this dose, eleven out of twelve patients experienced significant improvement which lasted from five to fifteen weeks. The only nonresponder obtained complete relief upon duplicating the dose. The only side effect was uni or bilateral ptosis in six patients which improved completely in seven to twenty one days. One patient developed a peripheral facial palsy with complete remission in nineteen days. No systemic side effects were noted. There was only one desertion from this study due to depression enhanced by prolonged (21 days) ptosis. All patients (including the deserter) agreed that treatment with BOTOX provided more relief than any other previous therapeutic method. Our results confirm those obtained by others but a more prolonged study is needed to better evaluate long term effects.
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PMID:[Treatment of blepharospasm with botulinum toxin]. 210 46

Blepharospasm and hemifacial spasm are involuntary movement disorders that affect the facial muscles. They are classified as cranial dystonias. Their cause is unknown and the underlying pathophysiology is poorly understood. Both dystonias are more common in women than in men. It is the middle-aged group that is most frequently affected. Because of their high visibility, these disorders may cause considerable distress and embarrassment. Affected persons are often mistakenly considered to have psychiatric problems. In addition, both dystonias may result in severe disability. For example, the person with untreated blepharospasm may experience social isolation and functional blindness. Recently, therapy in the form of botulinum toxin became available in larger centers. Repeated injections of the toxin usually relieves symptoms and enable patients to resume a former lifestyle. Neuroscience nurses who are knowledgeable about cranial dystonias and the resources that are currently available can retard progression of disability and help restore the individual's quality of life. Informed neuroscience nurses can also play an important role in case-finding, counselling and referral. Two examples are presented in order to highlight some of the complexities inherent in the diagnosis and treatment of each type of cranial dystonia and to further clarify the nurse's role. These examples are based on the personal and professional experience of the authors.
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PMID:Blepharospasm, hemifacial spasm and the nurse's role. 226 30

Thirteen positron emission tomographic studies of cerebral glucose utilization were carried out in 12 patients with postanoxic syndrome due to cardiac arrest. Seven subjects were in a persistent vegetative state. The 5 other subjects were normally conscious, but disclosed focal neurological signs. When compared with normal values, mean cerebral glucose metabolism was drastically decreased (+/- 50%) in vegetative subjects, and to a lesser degree (+/- 25%) in conscious patients. The most consistent regional alterations were found in the parieto-occipital cortex (9 cases), the frontier between vertebral and carotid arterial territories, followed by the frontomesial junction (5 cases), the striatum (3 cases with dystonia), thalamus (2 cases), and visual cortex (2 cases with cortical blindness). These data suggest that brain anoxia can result in global brain hypometabolism, which appears related to the vigilance state, as well as in regional alterations preferentially located in arterial border zones.
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PMID:Brain glucose metabolism in postanoxic syndrome. Positron emission tomographic study. 230 91

The results of the work of 6 health posts at electrical engineering plants of the Ukrainian Society of treh Blind are presented. The number of attendencies for invalids with eyesight disorders constituted 29.5 annually, for those with good eyesight it was 6.7. Time losses for a curative and diagnostic consultation and provision of medical care to invalids of the Ist group with eyesight disorders exceeded the time necessary for rendering care to those who could see by 31-34%. Feldshers spent 43.6% of their working time and medical nurses 65.3% on medical care. Attendencies associated with psychic disorders were listed as one of the biggest health problems in the disease pattern of the blind and those with weak eyesight, 91.1% of psychic cases being attributed to vegeto-vascular dystonia, diseases of the circulatory system, injuries and their aftereffects. A set of proposals was developed, thus it became possible to regulate the work of the health personnel of health posts at the enterprises belonging to the Society of the Blind.
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PMID:[Improving the organization of primary health care for invalids with impaired vision]. 252 45

X linked recessive deafness accounts for only 1.7% of all childhood deafness. Only a few of the at least 28 different X linked syndromes associated with hearing impairment have been characterised at the molecular level. In 1960, a large Norwegian family was reported with early onset progressive sensorineural deafness, which was indexed in McKusick as DFN-1, McKusick 304700. No associated symptoms were described at that time. This family has been restudied clinically. Extensive neurological, neurophysiological, neuroradiological, and biochemical, as well as molecular techniques, have been applied to characterise the X linked recessive syndrome. The family history and extensive characterisation of 16 affected males in five generations confirmed the X linked recessive inheritance and the postlingual progressive nature of the sensorineural deafness. Some obligate carrier females showed signs of minor neuropathy and mild hearing impairment. Restudy of the original DFN-1 family showed that the deafness is part of a progressive X linked recessive syndrome, which includes visual disability leading to cortical blindness, dystonia, fractures, and mental deficiency. Linkage analysis indicated that the gene was linked to locus DXS101 in Xq22 with a lod score of 5.37 (zero recombination). Based on lod-1 support interval of the multipoint analysis, the gene is located in a region spanning from 5 cM proximal to 3 cM distal to this locus. As the proteolipid protein gene (PLP) is within this region and mutations have been shown to be associated with non-classical PMD (Pelizaeus-Merzbacher disease), such as complex X linked hereditary spastic paraplegia, PLP may represent a candidate gene for this disorder. This family represents a new syndrome (Mohr-Tranebjaerg syndrome, MTS) and provides significant new information about a new X linked recessive sydromic type of deafness which was previously thought to be isolated deafness.
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PMID:A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. 764 52

Using positron emission tomography (PET), thirteen studies of regional brain glucose utilization were performed in 12 patients with postanoxic syndrome due to cardiac arrest. Investigations were carried out at least one month after brain anoxia. Seven subjects were in a persistent vegetative state. The others had regained normal consciousness with various residual neurological signs. When compared with normal values obtained in 16 normal, age-matched subjects, mean cerebral glucose metabolism was drastically decreased (+/- 50%) in vegetative cases, and to a lesser degree (+/- 25%) in conscious subjects. The most consistent regional alterations were observed in the parieto-occipital cortex (9 cases), the frontier between vertebral and carotid arterial territories. Other selective anomalies were found in the frontomesial junction (5 cases), the striatum (3 cases with dystonia), and the visual cortex (2 cases with cortical blindness). This study suggests that cerebral anoxia results in a global brain hypometabolism, which appears related to the vigilance state, as well as in regional disturbances preferentially located in arterial border zones. Although our findings remain to be confirmed in larger series, they suggest that PET provides a useful index of residual brain tissue function after anoxia and may assist in the monitoring of postanoxic encephalopathies.
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PMID:Brain glucose metabolism in postanoxic syndrome due to cardiac arrest. 797 23

Germ-line and somatic mtDNA mutations are hypothesized to act together to shape our history and our health. Germ-line mtDNA mutations, both ancient and recent, have been associated with a variety of degenerative diseases. Mildly to moderately deleterious germ-line mutations, like neutral polymorphisms, have become established in the distant past through genetic drift but now may predispose certain individuals to late-onset degenerative diseases. As an example, a homoplasmic, Caucasian, tRNA(Gln) mutation at nucleotide pair (np) 4336 has been observed in 5% of Alzheimer disease and Parkinson disease patients and may contribute to the multifactorial etiology of these diseases. Moderately to severely deleterious germ-line mutations, on the other hand, appear repeatedly but are eliminated by selection. Hence, all extant mutations of this class are recent and associated with more devastating diseases of young adults and children. Representative of these mutations is a heteroplasmic mutation in MTND6 at np 14459 whose clinical presentations range from adult-onset blindness to pediatric dystonia and basal ganglial degeneration. To the inherited mutations are added somatic mtDNA mutations which accumulate in random arrays within stable tissues. These mutations provide a molecular clock that measures our age and may cause a progressive decline in tissue energy output that could precipitate the onset of degenerative diseases in individuals harboring inherited deleterious mutations.
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PMID:Mitochondrial DNA sequence variation in human evolution and disease. 809 Jul 16


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