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At least 55 records · Page 3Linked to original sources
PubMed1998

Comparison of treatment of tardive dystonia and idiopathic cervical dystonia with botulinum toxin type A.

To compare clinical parameters of patients treated with botulinum toxin type A (BTX) for treatment of idiopathic cervical dystonia (ICD) and for tardive cervical dystonia (TCD), we studied 156 patients (149 with ICD and 7 with TCD) who were treated with serial injections of BTX over 5 years. We hypothesized that patients with TCD and ICD would demonstrate similar improvement in severity scores after treatment with BTX. The diagnosis, dates, dosages, and frequency of BTX injected and severity assessments were recorded into a computerized database. Nonparametric Wilcoxon rank sum and signed-rank tests were used to assess statistical significance. The change in severity scores between the first treatment and last treatment in both groups was not statistically significant (p = 0.4859), indicating similar improvement. The difference in BTX doses was significant (p = 0.0045). ICD patients (n = 149) received an average of 219.8 +/- 63.5 units and those with TCD (n = 7) were treated with an average dose of 287.4 +/- 60.3 units. The average number of days between treatments for individuals with ICD was 142.9 +/- 85.8, similar to that for persons with TCD (144.7 +/- 64.5) (p = 0.6075). Our analysis provides preliminary evidence that the improvement from the administration of BTX for patients with ICD and TCD is similar.

Adult↗
PubMed1995

Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia dopa responsive dystonia.

We report a novel mutation at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia with marked diurnal fluctuation (HPD)/dopa responsive dystonia (DRD). Reverse transcriptase-initiated PCR (RT-PCR) of lymphocyte mRNA showed both normal and small size fragments in the HPD patient and his asymptomatic mother. Sequence analysis revealed that skip splicing of exon 1 to exon 3 occurred in the small fragment. The patient and his mother were heterozygous for G --> C substitution at conserved consensus sequence GT at 5' end of the intron 2. Quantitative RT-PCR showed that the expression of normal GTP cyclohydrolase I mRNA decreased in their lymphocytes, while the HPD patient had more expression of mutant GTP cyclohydrolase I mRNA than his asymptomatic mother.

Adult↗
PubMed2000

Gene mutation in hereditary progressive dystonia with marked diurnal fluctuation (HPD), strictly defined dopa-responsive dystonia.

Mutations of the guanosine triphosphate (GTP)-cyclohydrolase I (GCH-I) gene, which catalyzes the first step in the tetrahydrobiopterin (the natural cofactor for tyrosine hydroxylase) biosynthesis, are demonstrated to cause HPD, i.e. strictly defined dopa-responsive dystonia. We analyzed the GCH-I gene of patients who fulfilled clinical criteria for typical hereditary progressive dystonia (HPD) to finalize the diagnosis. Two novel point mutations in two independent families and one novel de novo point mutation in one sporadic patient were identified. In a Japanese family, a T-to-C transition was found at exon 2, which resulted in a substitution of Cys 141 to Arg. In another Japanese family, a C-to-T mutation in exon 4 caused a nonsense codon Gln180Stop. In a clinically sporadic Japanese patient, T-to-G transition in exon 1 brought Met 102 Arg missense mutation, which was not observed in its biological parents. These three mutations were not observed in previously reported 57 pedigrees/patients and no polymorphisms in the coding region of the GCH-I gene were identified. None of the mutations of GCH-I gene in HPD reported to date or in this study have been detected more than once in any ethnicity suggesting a relatively high spontaneous mutation rate in this gene.

DNA Mutational Analysis↗
PubMed1999

[Movement disorders: dystonias which are apparently psychosomatic. Torsion dystonias].

In neuropediatric clinical practice, disorders of movement include a wide diversity of conditions, amongst which the dystonias are uncommon in our practice, although they have to be considered amongst the possible diagnoses in some cases. The great variety of clinical symptoms and age of onset together with the nonspecific, erratic clinical course make diagnosis difficult. Some clinical pictures of genuine torsion disorders may be confused with hysterical conversion disorders, somatizations or Munchausen's syndrome. Diagnosis requires clinical knowledge of both conditions--torsion dystonia as opposed to hysteria or a conversion reaction--and considerable ability and experience. Genetics and molecular studies have helped to clarify some difficult diagnostic problems and facilitated both diagnosis and treatment. In a diagnostic video session we show the case of a seven year old boy who initially presented with a dystonic disorder. There was some doubt as to the aetiology and different types of treatment were given by different specialists. The true diagnosis was reached after molecular genetic studies.

Antiparkinson Agents↗
PubMed1998

What is the optimal dose of botulinum toxin A in the treatment of cervical dystonia? Results of a double blind, placebo controlled, dose ranging study using Dysport. German Dystonia Study Group.

OBJECTIVES: Botulinum toxin injections have become a first line therapeutic approach in cervical dystonia. Nevertheless, published dosing schedules, responder rates, and frequency of adverse events vary widely. The present prospective multicentre placebo controlled double blind dose ranging study was performed in a homogenous group of previously untreated patients with rotational torticollis to obtain objective data on dose-response relations. METHODS: Seventy five patients were randomly assigned to receive treatment with placebo or total doses of 250, 500, and 1000 Dysport units divided between one splenius capitis (0, 175, 350, 700 units) and the contralateral sternocleidomastoid (0, 75, 150, 300 units) muscle. Assessments were obtained at baseline and weeks 2, 4, and 8 after treatment and comprised a modified Tsui scale, a four point pain scale, a checklist of adverse events, global assessment of improvement, and a global rating taking into account efficacy and adverse events. At week 8 the need for retreatment was assessed and then the code was unblinded. For those still responding, there was an open follow up until retreatment to assess the duration of effect. RESULTS: Seventy nine per cent reported subjective improvement at one or more follow up visits. Decreases in the modified Tsui score were significant at week 4 for the 500 and 1000 unit groups versus placebo (p<0.05). Additionally positive dose-response relations were found for the degree of subjective improvement, duration of improvement, improvement on clinical global rating, and need for reinjection at eight weeks. A significant dose relation was also established for the number of adverse events overall and for the incidence of neck muscle weakness and voice changes. CONCLUSION: Magnitude and duration of improvement was greatest after injections of 1000 units Dysport; however, at the cost of significantly more adverse events. Therefore a lower starting dose of 500 units Dysport is recommended in patients with cervical dystonia, with upward titration at subsequent injection sessions if clinically necessary.

Adult↗
PubMed2002

[Dopa-responsive dystonia--a hereditary dystonia easy to treat].

BACKGROUND: Dopa-responsive dystonia is a genetically determined disorder with early onset. The dystonia usually manifests as a disturbance of gait with fatigue and may be confused with spasticity. The diagnosis is based on clinical recognition and response to l-dopa, which is usually complete and long lasting. The most common genetic defect involves the gene for GTP cyclohydroxylase I. MATERIAL AND METHODS: We describe a Norwegian family in which three generations are affected. RESULTS: All those affected had gait disturbance from childhood; the disturbance became worse during the day and after exercise. Clinical examination revealed reduced fine motor skills and brisk tendon reflexes. Dystonic posturing of one or both legs could be seen during walking. All patients were treated with l-dopa with excellent effect. INTERPRETATION: Though uncommon, this disorder is an important differential diagnosis in children with gait disturbance, particularly in those suspected as having spastic paraparesis.

Adolescent↗
PubMed1992

A case with nocturnal paroxysmal unilateral dystonia and interictal right frontal epileptic EEG focus: a lateralized variant of nocturnal paroxysmal dystonia?

We report here a patient with frequent nocturnal attacks, characterized by paroxysmal dystonic posturing of the left arm and contraction of the lower face, lasting 20-30 seconds. The attacks occurred in clusters of up to 20 spasms during the NREM stage of sleep. Interictal EEG showed clear-cut epileptic discharges in the right frontal region. Repeated ictal video-EEG recordings revealed only arousal pattern immediately before and during seizures except in those which evolved to left sided clonic hemiconvulsions. The dystonic attacks here described share many features of nocturnal paroxysmal dystonia (NPD) of Lugaresi and Cirignotta in common, including nocturnal periodic occurrence, absence of ictal EEG changes during attacks, and favorable response to CBZ, except for their unilateral nature. It was assumed that our case may be a lateralized variant of NPD and would further support the hypothesis that NPD is one particular form of frontal lobe epilepsy.

Child↗
PubMed1996

[Psychogenic hand dystonia and hereditary polyneuropathy with liability to pressure palsies. A contribution to etiology of dystonias].

We report on a case of a female who had developed a fixed flexion contracture of the 4th and 5th fingers of the right hand which was painless and at-rest right in the beginning at the age of 19. By means of neurographical examinations a hereditary neuropathy with liability to pressure palsies was established in her and her mother, which had clinically manifested with symptoms of the ulnar nerve at the affected hand. The dystonic symptoms did not show any progression within ten years follow-up. A remarkable feature of the course was the twice repeated occurrence of short, sudden and complete remissions immediately following invasive diagnostic procedures. The thorough discussion of differential diagnostic aspects and the analysis of the familiar situation and psychodynamics of the patient resulted in the diagnosis of a psychogenic hand dystonia.

Adult↗
PubMed2000

Dopa-responsive dystonia: mutation analysis of GCH1 and analysis of therapeutic doses of L-dopa. German Dystonia Study Group.

Analysis of the gene GCH1 in 58 patients with dystonia and a positive response to L-dopa revealed mutations in 30 individuals from 22 families. Thirteen of the mutations observed were familial, three occurred de novo, and inheritance could not be determined in six cases. There was no mutation in the promoter region of GCH1 in any patient. The doses of L-dopa given to members of the two groups were not significantly different.

Adult↗
PubMed2004

Capturing the true burden of dystonia on patients: the Cervical Dystonia Impact Profile (CDIP-58).

OBJECTIVES: To develop a new rating scale for measuring the health impact of cervical dystonia (CD) that includes patients' perceptions and complements existing observer dependent clinician rating scales. METHODS: Scale development was in three stages. In Stage 1, a large pool of items was generated from patient interviews (n = 25), expert opinion, and literature review. In Stage 2, these items were administered by postal survey to people with CD. The resulting data were analyzed using Rasch item analysis to construct, from the item pool, a rating scale that satisfied criteria for rigorous measurement. In Stage 3, the measurement properties of this rating scale were examined in an independent sample of people with CD. RESULTS: In Stage 1, 150 items concerning the health impact of CD were generated. In Stage 2, 556 people completed questionnaires (87% response rate) and a 58-item rating scale measuring the health impact of CD in eight areas was constructed (CD Impact Profile, CDIP-58). In Stage 3, CDIP-58 data from 391 people (87% response rate) were received. Analyses supported the measurement of eight unidimensional constructs (infit mean square range 0.62 to 1.50), item calibration (33.37 to 67.56), and patient separation statistics (2.59 to 3.38). Items demonstrated stable calibrations in subgroups of people with CD supporting the stability of the CDIP-58. CONCLUSIONS: The CDIP-58 is a reliable and valid patient-based rating scale measuring the health impact of CD in eight health dimensions.

Adult↗