Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

It is controversial if early onset Parkinson's disease (EOPD) (onset at < 41 years of age) is Parkinson's disease (PD) occurring at a younger age or a different disease. This controversy is due to some clinical and pathological differences between EOPD and PD. Within EOPD, there appear to be two groups namely: young onset Parkinson's disease (YOPD), with onset between 21 and 40 years, and juvenile parkinsonism (JP), with onset at < 20 years. The two major clinical differences between these groups are a higher familial occurrence of PD and dystonia in JP. In this study, we determine if the two groups have the classical features of PD, namely rest tremors, rigidity, bradykinesia, and postural instability, and have a meaningful response to levodopa. Furthermore, we compare their other clinical features, autonomic and cognitive functions, and levels of CSF monoamine metabolites to determine differences between these groups. We observe that all YOPD (100%) and JP (85%) patients had rest tremors. Most of these patients also had a meaningful response to levodopa (YOPD: 72%; JP: 100%). The prevalence of family history of PD was similar, whereas dystonia was more frequent in JP (43%) compared to YOPD (9%). Autonomic symptoms were twice as common in JP (42%) compared to YOPD (17%). However, bedside autonomic functions were abnormal in similar proportions and, like in PD, suggest involvement of parasympathetic nervous system. Cognitive dysfunction does occur but with no difference in severity between the two groups. The difference in number of patients between YOPD and JP groups makes statistical comparison of the occurrence of clinical features like dystonia and autonomic dysfunction difficult.(ABSTRACT TRUNCATED AT 250 WORDS)
Mov Disord 1994 Sep
PMID:Early onset Parkinson's disease: are juvenile- and young-onset different? 752 83

Hemifacial spasm is a condition characterized by involuntary, episodic, synchronous contractions of muscles innervated by the facial nerve in one half of the face. The treatment can be medical or neurosurgical, but the most effective is injections of botulinum toxin. 13 patients who received this treatment for hemifacial spasm are described. The treatment of different forms of focal dystonias has been described before in this journal. The aetiology of hemifacial spasm is different from that of focal dystonia. It is probably due to compression of the facial nerve, causing ectopic generation of impulses. Treatment with botulinum toxin is shown to be effective also for this condition, but the dosage and the duration of effect differ from those reported for focal dystonias. This may be due to differences in the pathophysiological mechanisms of the two conditions.
Tidsskr Nor Laegeforen 1995 Sep 20
PMID:[Hemifacial spasms. Causes, clinical findings and treatment]. 757 Apr 93

The authors present the MRI findings of two children with insidious walking difficulties, signs of corticospinal tract involvement, and signs and symptoms of extrapyramidal dysfunction such as rigidity and generalized dystonia, the latter with predominance of oromandibular involvement. In one child, MRI revealed prominent hypo-intensity in the globus pallidus and in the substantia nigra on T2-weighted spin echo images, consistent with iron deposition and thus with previous post-mortem findings of Hallervorden-Spatz disease. In the other case, the hypo-intensity was restricted to the globus pallidus, in which a small area of hyperintensity in its internal segment was demonstrated--the so called 'eye-of-the-tiger' sign. The authors propose that a combination of previously mentioned neurological signs with these specific MRI findings is highly suggestive of an in vivo diagnosis of the late infantile type of HSD.
Dev Med Child Neurol 1995 Sep
PMID:In vivo diagnosis of Hallervorden-Spatz disease. 864 44

A YAC contig was constructed of Xq13.1 in order to sublocalize the X-linked dystonia-parkinsonism (XDP) syndrome locus, DYT3. The contig spans a region of approximately 1.8 Mb and includes loci DXS453/DXS348/IL2R gamma/GJB1/CCG1/DXS559. For the construction of the contig, nine sequence-tagged sites and four short tandem repeat polymorphisms (STRPs) were isolated. The STRPs, designated as 4704#6 (DXS7113), 4704#7 (DXS7114), 67601 (DXS7117), and B4Pst (DXS7119) were assigned to a region flanked by DXS348 proximally and by DXS559 distally. Their order was DXS348/4704 #6/4704 #7/67601/B4Pst/DXS559. They were applied to the analysis of allelic association and of haplotypes in 47 not-obviously-related XDP patients and in 105 Filipino male controls. The same haplotype was found at loci 67601 (DXS7117) and B4Pst (DXS7119) in 42 of 47 patients. This percentage of common haplotypes decreased at the adjacent loci. The findings, together with the previous demonstration of DXS559 being the distal flanking marker of DYT3, assign the disease locus to a small region in Xq13.1 defined by loci 67601 (DXS7117) and B4Pst (DXS7119). The location of DYT3 was born out by the application of a newly developed likelihood method for the analysis of linkage disequilibrium.
Am J Hum Genet 1995 Sep
PMID:Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1. 766 93

We evaluated motor responses evoked after magnetic cortical stimulation in dystonia, emphasizing the relationship between resting and facilitation state. We studied 15 normal controls (mean age, 37.9 years; range, 23 to 63) and 13 dystonic patients (mean age, 43.4 years; range, 20 to 56). Surface electrodes were placed over the right first dorsal interosseous muscle to measure motor evoked potentials and inhibitory silent periods obtained with magnetic stimulation. The amplitude ratio of motor evoked potentials measured during facilitation and at rest with low-intensity magnetic stimulation was significantly higher in dystonic patients (15.09) when compared with normal subjects (5.43; p = 0.04). The ratio of duration of silent periods evoked with 120% motor threshold (MT) and MT + 25% magnetic stimulus intensity was significantly higher in dystonic patients (78.4%) when compared with normal subjects (69.7%; p = 0.04). We conclude that with low-intensity magnetic stimulation the relationship between amplitudes of motor potentials evoked at rest and during facilitation, as well as the responses of pathways that mediate silent periods, are disturbed in focal dystonia.
Neurology 1995 Sep
PMID:Abnormal motor evoked responses to transcranial magnetic stimulation in focal dystonia. 767 25

Botulinum toxin antibodies (ABS) may be a reason why occasionally patients do not have a response to injections with botulinum toxin type A (BTX). We tested 86 patients with cervical or oromandibular dystonia for the presence of BTX ABS; 20 were positive and 66 were negative. All patients who tested positive had no response to BTX injections on at least two consecutive treatment sessions. When compared with 22 randomly selected patients with negative BTX ABS results, the patients with positive BTX ABS tests had an earlier age at onset (mean age: 31.8 +/- 16.7 years versus 43.4 +/- 10.5; p < 0.05), higher mean dose per visit (249.2 +/- 32.5 U versus 180.8 +/- 68.7, p < 0.0005), and higher total cumulative dose (mean dose: 1,709 +/- 638 U versus 1,066 +/- 938; p < 0.01). Four out of five patients with positive ABS tests later had a response to botulinum toxin type F injections. Of 26 patients with negative BTX ABS results who were tested because of poor response on at least one visit, 21 had good response after subsequent injection and five had no effect. Except for young age at onset and higher dosages, there were no other factors that could reliably predict which patients would become immunoresistant to BTX type A injections. Treatment with alternate serotypes may offer clinical benefit to this group of patients. Absence of detectable BTX ABS may occur in patients with poor response to BTX injections because of inadequate dosage, injections of inappropriate muscles, or poor sensitivity of the BTX ABS bioassay.
Neurology 1995 Sep
PMID:Response and immunoresistance to botulinum toxin injections. 767 38

Botulinum A toxin injection is the most recent and effective treatment of various movement disorders especially focal dystonia. Spasmodic torticollis is one focal dystonia which responds poorly to both medication and surgery. Botulinum A toxin injection has been adopted as a treatment procedure at the Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand since 1989 (before the American Food and Drug Administration approval) as a research protocal for Thai patients. This report is the first ever study of this treatment for Thai patients with spasmodic torticollis. Fifty six spasmodic torticollis patients who had been treated with botulinum A toxin injection at the Movement Disorder Clinic, Siriraj Hospital were analysed. Thirty six patients were male and the male to female ratio was 1.8:1. Most of the patients (76.79 per cent) were aged between 20-49 years and half of them were from Bangkok. Twelve patients (21.43 per cent) were classified as simple torticollis, 35 patients (62.5 per cent) were combined torticollis, 7 patients (12.5 per cent) were retrocollis, and 2 patients (3.57 per cent) were lateral collis. Three patients had generalised dystonia and 2 patients had segmental dystonia. Duration of suffering in each patient ranged from 1 month to 25 years with the mean duration of 3.70 (S.D. 5.09) years. Only four patients (7.14 per cent) refused botulinum A toxin injection due to their mild symptoms. The remaining 52 patients were given botulinum A toxin injection of 30-120 international units into the most overactive group of muscles which were responsible for abnormal neck posture (mainly sternocleidomastoid and splenius capitis). Eight patients (15.38 per cent) were lost to follow-up.(ABSTRACT TRUNCATED AT 250 WORDS)
J Med Assoc Thai 1994 Sep
PMID:Botulinum A toxin treatment in spasmodic torticollis: report of 56 patients. 770 65

The ability to communicate is a basic need. Spasmodic dysphonia, a rare dystonia focal to the larynx, affects the vocal muscles resulting in abnormal sound and speech production. The voice may become hoarse, strained, strangled, tremulous, whispered, or aphonic. Lack of appropriate diagnosis along with the continued use of an abnormal voice often results in frustration, anxiety, and depression. Improved diagnostic ability and unique treatment with botulinum toxin injection (Botox) are now available to patients in several large medical centers across the United States and Canada. A knowledgeable and observant health care provider can alert patients and families to the possibility of treatment for a chronic voice disturbance.
Nurse Pract 1994 Sep
PMID:Spasmodic dysphonia: new diagnosis and treatment opportunities. 781 74

The locus (DYT3) underlying the X-linked dystonia-parkinsonism syndrome (XDP) was delineated within proximal Xq12-Xq13.1 by analysis of linkage, allelic association, and haplotypes. Short tandem repeat polymorphisms at loci DXS227, DXS559, DXS453, DXS106, DXS339, and DXS135 were studied. The occurrence of a recombination within a three-generation family established DXS559 as the distal flanking marker of DYT3. /phi/ and /delta/ values were determined as indicators of the degree of allelic association between DYT3 and the six marker loci. In addition, haplotype analysis was performed at the loci studied. The findings establish DXS106 as the proximal flanking marker of DYT3. Given an approximate distance between DXS106 and DXS559 of 3.0 Mb, isolation of DYT3 is now feasible by positional cloning techniques.
Genomics 1994 Sep 01
PMID:DXS106 and DXS559 flank the X-linked dystonia-parkinsonism syndrome locus (DYT3). 782 58

The genetically dystonic hamster is an animal model of idiopathic (torsion) dystonia that displays sustained abnormal movements and postures either spontaneously or in response to mild environmental stimuli. Since dystonic attacks occur in the absence of any lesion which can be defined by standard histopathological techniques in the central nervous system, the presumption is that dystonia in mutant hamsters is due to some biochemical disturbance activity in brain regions involved in motor functions. In the present study we determined the monoamine neurotransmitters dopamine, noradrenaline, adrenaline and serotonin (5-HT) as well as the dopamine metabolites homovanillic acid (HVA) and dihydroxyphenylacetic acid (DOPAC) and the 5-HT metabolite 5-hydroxyindoleacetic acid (5-HIAA) in 14 brain regions of male and female dystonic hamsters and age-matched non-dystonic controls. All determinations were done at age of maximum susceptibility for induction of dystonic attacks. Since both genders of dystonic hamsters exhibit the same characteristic age-dependent time-course of dystonia, it was assumed that only those biochemical alterations are critically involved in dystonia that occur in both female and male animals. The neurochemical data show that except for a significant decrease of dopamine and HVA in the olfactory bulb, no consistent changes in dopamine metabolism are present across brain regions, including the basal ganglia, of dystonic hamsters. In contrast, marked increases in noradrenaline and 5-HT or 5-HIAA were found in several brain areas of both genders, indicating an enhanced activity of central noradrenergic and serotonergic nuclei in the brainstem. The present results suggest the involvement of noradrenergic and serotonergic neural systems in the pathophysiology of dystonia. Based on these data and recent theoretical suggestions from clinical findings, drugs which reduce noradrenergic and serotonergic neurotransmission may be a useful therapeutic approach to dystonia.
Brain Res 1994 Sep 26
PMID:Marked regional disturbances in brain metabolism of monoaminergic neurotransmitters in the genetically dystonic hamster. 783 42


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