Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 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

Intramuscular injections of botulinum toxin (Botox) are followed by a dose-dependent focal paresis which can be used to treat several focal movement disorders. Botox injections are recommended as effective for the treatment of blepharospasm, hemifacial spasm, and cervical dystonia (torticollis). Focal dystonias elsewhere (for example, writer's cramp) can often be treated with similar success. Others, such as oromandibular dystonia, are more difficult to treat. In the case of more generalized dystonias, some focal muscle spasms can be treated with success by local intramuscular injections. New indications are still being investigated, for example in focal tremors and spasticity. Side effects are in general slight and disappear at the end of toxin effect. In general, it is necessary to repeat the injections after a couple of months, due to a cessation of effect after regrowth of nerve terminals. New injections have similar effects even over years of treatment.
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PMID:[Treatment of movement disorders using botulinum toxin]. 141 87

A 12-year-old boy was admitted to our hospital in May 1990. Since two years previously, he became restless and could not adapt himself to his new school mates and teacher. He came to refuse going to school, and his intellectual performance rapidly deteriorated, thereafter. During the following two years, he gradually became mutic and incontinent with dystonic involuntary movements, and was admitted to our hospital. Examination revealed melanoderma, mutism, dementia and grossly normal visual and auditory system except for bilateral optic atrophy. Volitional movements were severely limited because of marked truncal and extreme dystonia and spastic paresis. Urinary 17-KS and 17-OHCS were decreased. Serum cortisol did not increase normally on rapid ACTH test. Very-long-chain fatty acids in serum were increased. Serial CTs and MRI demonstrated marked ventricular dilatation and diffuse white-matter lesions involving the frontal lobes, corpus callosum, internal capsules, and less markedly parieto-occipital regions with slight calcification in the optic radiations. Those in the frontal lobes had been visualised in CTs taken 18 months after the onset. School refusal, the initial symptoms of the patient, is one of serious socioeducational problems in Japan. While the majority of children with school refusal might be of non-organic affections, those with apparent mental deterioration and behavioral abnormalities should undergo non-invasive CT or MRI evaluation during the early stage of the disorder. And if diffuse white matter lesions is suggested even in the frontal lobe, the possibility of adrenoleuko-dystrophy should be considered.
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PMID:[A case of adrenoleukodystrophy having progressed from the frontal lobes]. 142 38

Fifty-two patients affected by focal dystonia or hemifacial spasm were treated with repeated injections of botulinum toxin. A clinical improvement was observed in all patients with blepharospasm; clinical benefit had a mean duration of 10 weeks. Clinical results were less impressive, but also favorable in patients affected by spasmodic torticollis and by hemifacial spasm. In the latter, the incidence of drug-induced paresis was much higher than that observed in patients with blepharospasm, even though the doses of toxin injected were significantly lower.
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PMID:Botulinum toxin as a treatment for blepharospasm, spasmodic torticollis and hemifacial spasm. 156 61

Neville and coauthors (1973) reported several cases of neurovisceral storage disease with vertical supranuclear gaze paresis, ataxia and other central nervous disorders. This disease is classified into Niemann-Pick disease type C because of the presence of foamy cells or sea-blue histiocytes in bone marrow, and the accumulation of sphingomyelin, cholesterol and other glycosphingolipids. In this paper, we reported a rare case of neurovisceral storage disease with severe horizontal supranuclear ophthalmoplegia and sea-blue histiocyte in bone marrow. The patient was a 9-year-old boy. He was hospitalized for unstable gait. The neurological examination revealed severe horizontal supranuclear ophthalmoplegia, moderate ataxia of four extremities and trunk, and mild dystonia of neck and four limbs on walking and standing. The ocular movement in the vertical direction was less impaired and his mentality was almost normal. The bone marrow aspiration showed a few sea-blue histiocytes. The activities of fibroblast lysosomal enzymes including sphingomyelinase were normal. The rectal biopsy revealed many foamy cells in mucous membrane and submucosa. The cell had PAS-positive and acid phosphatase-positive substances, which showed rose-red metachromasia with Feyrter's thionin method. But these abnormal cells were never stained by Sudan black B. These histochemical reactions were compatible with those of Neville's neurovisceral storage disease (Lake, 1983). Therefore we supposed the pathogenesis of this case was the same as that of Neville's cases. In this case, the horizontal supranuclear ophthalmoplegia was a unique symptom.
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PMID:[A case of neurovisceral storage disease with sea-blue histiocyte and severe horizontal supranuclear ophthalmoplegia]. 233 23

Nine cases of progressive supranuclear palsy are reported in this paper. There are 6 males and 3 females in this series. The average age at admission was 62 years. The clinical features of those cases are: (1) onset at the presenile with gradual progression, (2) supranuclear vertical ophthalmoplegia, especially downgaze paresis, (3) disarthria, (4) gait disturbances, (5) dystonia and rigidity of the limbs, (6) clumsiness and ataxia, (7) masked face, (8) bilateral pyramidal signs and (9) mental disturbances. The CT scan in this series showed dilatation of the ventricular system, enlargement of the Sylvius fissure and cortical sulci. There was also enlargement of quadrigeminal and cisterns in the CT scan. The CT diagnosis were cerebral atrophy in 9 cases and brainstem atrophy in 8 cases in this series.
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PMID:[Progressive supranuclear palsy]. 263 3

A large Japanese family with probable Machado-Joseph disease (MJD) is described. Detailed neurological examination in 12 patients from 3 generations revealed variable combinations of cerebellar ataxia, ocular paresis, difficulty in eye-lid opening, bulging eyes, facial "myokymia", facial dystonia, pyramidal signs, extrapyramidal signs, and peripheral neuropathy. Mode of inheritance was in all likelihood autosomal dominant. Blood components were typed for 19 conventional chromosome markers. Although association of the affected members with the PGM1 system was high, linkage analysis failed to reveal any markers studied with a lod score higher than 3. The unique constellation of symptoms appeared sufficient to rule out other types of spinocerebellar degeneration. When there is a typical case in a given family, MJD appears to be a clinically recognizable entity.
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PMID:A large Japanese family with Machado-Joseph disease: clinical and genetic studies. 271 40

The term spasticity is used to describe many relatively unrelated syndromes and, because they share few common pathophysiologic mechanisms, it is not possible to define the physiology or pharmacology of spasticity. In patients with spastic paresis, it is the latter negative symptom (rather than the spasticity) that accounts for almost all the functional disability. Clinical neurophysiologic techniques are useful for categorization of patients with clinically identical syndromes into subgroups which respond to different therapies. Fusimotor or spindle primary afferent hyperactivity have not been demonstrated in spastic patients; reduction in central inhibitory mechanisms probably accounts for spastic hyper-reflexia. Increased passive muscle stiffness may also be clinically significant. Therapies for spasticity include elimination of causative or enhancing factors, frequent muscle stretching, surgical approaches and chemotherapy. The latter includes dantrolene (which weakens muscles), baclofen (particularly useful for reduction of flexor spasms and flexor dystonia in patients with spinal lesions) and diazepam.
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PMID:Physiologic and pharmacologic approaches to spasticity. 332 74

Muscular deficit, voluntary movement disorders, abnormal movements, and global disturbance of movements are considered. A muscular deficit is part of the Dejerine-Roussy syndrome. It appears as hemiparesis, regressive within days or weeks. A juxta-thalamic capsular involvement can be considered as the origin of this deficit in most cases, especially in hemorrhagic processes even if these are located within the thalamus, on account of mass effect. The occurrence of paresis or paralysis in ischemic processes strictly situated in the thalamus, however, is discussed: the deficit may be limited to parts of limbs; most often, it is not associated with pyramidal symptomatology; recovery is observed in the hand before the inferior limb. To these anatomoclinical facts some data from animal experiments or thalamic stereotaxic surgical procedures in humans must be added. A deafferentiation from the cortex seems to be the main cause of these motor disturbances. Three types of voluntary movement disorders may be encountered: contralateral cerebellar incoordination due to the involvement of the nucleus ventrooralis posterior where the superior cerebellar peduncle ends; homolateral imitative syncinesias, not confined to thalamic lesions, but frequently observed in this location with a particular aspect; contracture. Abnormal movements include choreoathetosic movements, and exceptionally intention and action tremor, and asterixis. They primarily involve the superior limb, but reported cases are not associated with thalamic limited lesions. Global disturbance of movements is observed in the hand or gait. "Thalamic hand" consists of incessant finger movements in the vertical and horizontal planes. They are associated with thalamic dystonia and deep sensibility disorder.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Motor symptomatology of the thalamus]. 378 43

On the basis of histological and histochemical examinations of 100 postmortem observations of bacterial shock, 4 stages of disorders in the microcirculatory bed and in cell elements of organs in this complication are distinguished. The hemodynamic stage consists in redistribution of the blood flow, alternation of spasm and paresis, and vascular dystonia. In the stage of hemorheological disorders congestion is substituted by stasis, sludging of erythrocytes due to pachyemia. As a result of increased permeability of vessel walls, interstitial edema and early changes of parenchymatous cells of organs occur at the enzymatic level. The addition of DIBC syndrome leads to deeper ischemia of organs and formation of necroses, hemorrhages, acute ulcers. As a consequence, organ insufficiency (adrenal, renal, respiratory) develops.
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PMID:[Organ pathology of bacterial shock]. 667 Sep 42


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