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

During the past 10 years numerous studies have been devoted to the pathology of musicians. A few of these studies exclusively concern pianists. From a questionnaire filled and returned by 44 pianists we were able to determine the type and frequency of the symptoms encountered. Pain and stiffness are the principal symptoms, the 4th and 5th fingers being those most affected. Three pathologies predominate in the literature: overuse syndrome, entrapment neuropathy and functional dystonia. The often long and difficult curative treatment rests on rehabilitation. Training in the fundamental postures the pianists must adopt should enable them to reduce the occurrence of these pathologies.
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PMID:[Hand disorders in pianists]. 141 Aug 99

Two siblings developed a neurological disorder in the first decade characterised by generalised dystonia, hypokinesia, and subacute visual loss. CT and serial MRI examinations showed bilateral lesions of the striatum, mainly in the putamen. The classification of these patients is discussed in relation to infantile bilateral striatal necrosis (IBSN), Leigh's disease, and Leber's optic neuropathy. The literature shows a clinical and aetiopathogenetic overlap between these syndromes. In our cases parental consanguinity and the involvement of a single generation suggest a new clinical condition with autosomal recessive transmission.
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PMID:Bilateral striatal necrosis, dystonia and optic atrophy in two siblings. 154 91

Levels of R proteins, immunoglobulins A, M, and G, natural anti-sheep erythrocyte antibodies, active oxygen (superoxide) were measured in the neutrophilic leukocytes in pregnant females at a risk for late gestosis. The examinees were found to have high levels of R proteins, IgA, IgM, natural anti-sheep erythrocyte antibodies, neutrophils capable to restore NST, and low levels of IgG. Teen-agers, old-year primiparas, pregnant females with a history of pyelonephritis, obesity, neuropathy in the prior labour, and hypertensive vegetovascular dystonia constituted a gestosis-risk group. The R-protein test should be considered to be the most informative indicator of a gestosis risk.
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PMID:[Immunity indices in the diagnosis of pretoxicosis in women with an increased risk for the development of late toxicosis]. 165 May 37

We investigated a family with Leber's hereditary optic neuropathy in which affected individuals were homoplasmic for the point mutation of the NADH-dehydrogenase 4 gene of mitochondrial DNA, described by Wallace and colleagues in 1988. The proband had bilateral optic atrophy, tremor, dystonia, and sharply defined lesions in the putamen on magnetic resonance images. Optic atrophy was found in another 3 of 13 investigated relatives on the maternal side. Additional neurological signs were found but only in patients with optic neuropathy. The morphological appearance and the respiratory chain function of muscle tissue were investigated in the proband, his mother, and 3 siblings. Polarographic measurements revealed complex I deficiency in the 5 investigated subjects. Morphological changes of mitochondria were found in 4 of these subjects. There was no decrease in complex I activity measured as NADH ferricyanide reductase or rotenone-sensitive NADH cytochrome c reductase activities. In other cases with complex I deficiency, good agreement between polarographic and spectrophotometric measurements was found. This study showed that there is decreased activity of complex I of the respiratory chain in muscle and that cerebral striatal lesions occur in Leber's hereditary optic neuropathy with the NADH-dehydrogenase 4 gene point mutation.
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PMID:Leber's hereditary optic neuropathy and complex I deficiency in muscle. 176 94

Nineteen cases are described, including 12 cases from three different families and 7 nonfamilial cases, in which multisystem neurological disease was associated with acanthocytosis in peripheral blood and normal plasma lipoproteins. Mild acanthocytosis can easily be overlooked, and scanning electron microscopy may be helpful. Some neurologically asymptomatic relatives with significant acanthocytosis were identified during family screening, including some who were clinically affected. The mean age of onset was 32 (range 8-62) yrs and the clinical course was usually progressive but there was marked phenotypic variation. Cognitive impairment, psychiatric features and organic personality change occurred in over half the cases, and more than one-third had seizures. Orofaciolingual involuntary movements and pseudobulbar disturbance commonly caused dysphagia and dysarthria that was sometimes severe, but biting of the lips or tongue was rarely seen. Chorea was seen in almost all symptomatic cases but dystonia, tics, involuntary vocalizations and akinetic-rigid features also occurred. Two cases had no movement disorder at all. Computerized tomography often demonstrated cerebral atrophy. Caudate atrophy was seen less commonly, and nonspecific focal and symmetric signal abnormalities from the caudate or lentiform nuclei were seen by magnetic resonance imaging in 3 out of 4 cases. Depression or absence of tendon reflexes was noted in 13 cases and neurophysiological abnormalities often indicated an axonal neuropathy. Sural nerve biopsies from 3 cases showed evidence of a chronic axonal neuropathy with prominent regenerative activity, predominantly affecting the large diameter myelinated fibres. Serum creatine kinase activity was increased in 11 cases but without clinical evidence of a myopathy. Postmortem neuropathological examination in 1 case revealed extensive neuronal loss and gliosis affecting the corpus striatum, pallidum, and the substantia nigra, especially the pars reticulata. The cerebral cortex appeared spared and the spinal cord showed no evidence of anterior horn cell loss. Two examples of the McLeod phenotype, an X-linked abnormality of expression of Kell blood group antigens, were identified in a single family and included 1 female. The genetics of neuroacanthocytosis are unclear and probably heterogeneous, but the available pedigree data and the association with the McLeod phenotype suggest that there may be a locus for this disorder on the short arm of the X chromosome.
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PMID:Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. 199 79

Cramp syndromes pose a challenge for neuroscientists. The motor disorders of Isaacs syndrome have been ascribed to peripheral neuropathy, and sometimes there is ample supporting evidence of neuropathy. However, signs of overt neuropathy are found in a minority of cases and the essential findings (carpal and pedal spasm, pseudomyotonia and myokymia) may arise from abnormal excitability of the perikaryon because similar manifestations are seen in tetany and multiple sclerosis. The Moersch-Woltman (stiffman) syndrome differs from Isaacs' syndrome in essential characteristics. Hyperventilation syndromes may mimic either simple cramps, the Isaacs syndrome, the Moersch-Woltman syndrome, or the Foley and Denny-Brown syndrome of benign fasciculation and cramps. New approaches are needed to define the etiology and pathogenesis of these neurogenic disorders because the results of peripheral nerve block and spinal anesthesia have not been consistent in cases of typical Isaacs syndrome. Occupational cramps can be regarded as a form of action dystonia but that statement is a clue, not an "explanation". Myopathic disorders are only rarely a cause of cramp syndromes. In the glycogen storage disorders, the chemical basis of the cramp is still unproven. Whether myoadenylate deaminase is a cause of cramps is debated.
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PMID:Cramps, spasms and muscle stiffness. 299 4

A unique disorder is described in seven members of two families in whom dystonia was variably associated with subacute visual loss or asymptomatic optic atrophy, and striking bilateral symmetrical lucencies on CT scan, especially involving the putamen. It is possible that this is a variant of Leigh's disease. However, there were considerable differences between these patients and those with pathologically proven Leigh's disease. This condition must be excluded in all patients thought to have idiopathic dystonia, subacute visual failure similar to Leber's optic neuropathy, or a combination of these disorders.
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PMID:Familial dystonia and visual failure with striatal CT lucencies. 371 13

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

This is the first reported case of dystonia with a partial deletion of the long arm (q) of chromosome 18. Neurologic findings in the 18q- syndrome include mental retardation, seizures, nystagmus, incoordination, tremor, and chorea. A 36-year-old woman with an 18q terminal deletion [karyotype 46,XX,del(18)(q22.2)] had hypothyroidism, diabetes mellitus, borderline intelligence, short stature, short neck, sensorineural hearing loss, and sensorimotor axonal neuropathy. Parents' karyotypes were normal. She had had incoordination and writing difficulty since childhood. Posturing and tremor of the head began at age 16, followed by arm tremors. She had jaw deviation and tremor, neck tremor with retrocollis, involuntary pronation of the right arm, coarse postural and severe action tremor, and tight pen grip with dystonic wrist extension on writing. The 18q- syndrome should be added to the list of genetic causes of secondary dystonia. A karyotype analysis should be considered in secondary dystonias, particularly when there are associated features such as short stature and endocrinopathies.
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PMID:Dystonia in a patient with deletion of 18q. 756 32

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


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