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PubMed1998

A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia.

We report a 37-year-old Japanese woman with hereditary progressive dystonia with marked diurnal fluctuation and dopa-responsive dystonia. She developed dystonia in the lower limbs at the age of 11 years, followed by spasmodic torticollis and resting tremor of the feet, which responded remarkably to low doses of levodopa (100 mg/day). Concentrations of biopterin and neopterin in CSF were decreased. Polymerase chain reaction analysis of the guanosine 5'-triphosphate cyclohydrolase I gene revealed a novel mutation (Thr186-->Lys).

Adult↗
PubMed1999

Safety and efficacy of NeuroBloc (botulinum toxin type B) in type A-resistant cervical dystonia.

OBJECTIVE: To determine the safety and efficacy of botulinum toxin type B (BoNT/B) in patients with type A-resistant cervical dystonia (CD). BACKGROUND: Local intramuscular injections of BoNT are an effective therapy for CD. After repeated use, some patients become resistant to therapy. BoNT/B, effective in type A toxin-responsive patients, is proposed as an alternative therapy for type A-resistant patients. METHODS: The authors performed a 16-week, double-blind, placebo-controlled trial of BoNT/B in type A-resistant patients with CD. After resistance to therapy was confirmed with the frontalis-type A test, placebo or 10,000 U BoNT/B was administered in a single session into two to four clinically involved muscles. The Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) was the primary efficacy measurement. TWSTRS-Total, three visual analog scales (Patient Global Assessment of Change, Principal Investigator Global Assessment of Change, Patient Analog Pain Assessment), and adverse events were assessed at baseline and weeks 2, 4, 8, 12, and 16. RESULTS: A total of 77 patients participated (38 placebo, 39 active). Improvements in severity, disability, and pain were documented in the BoNT/B-treated group. TWSTRS-Total scores were improved in the BoNT/B-treated group at weeks 4 (p = 0.0001), 8 (p = 0.0002), and 12 (p = 0.0129). All three visual analog scales demonstrated improvements at week 4 (p < 0.0001, 0.0001, and 0.001). A Kaplan-Meier analysis supported a duration of effect of 12 to 16 weeks in the active group. Dry mouth and dysphagia were self-limited adverse effects, reported more commonly in the BoNT/B group. CONCLUSIONS: Botulinum toxin type B (BoNT/B) (NeuroBloc) is safe and efficacious for the management of patients with type A-resistant cervical dystonia with an estimated duration of treatment effect of 12 to 16 weeks.

Adult↗
PubMed1999

Safety and efficacy of NeuroBloc (botulinum toxin type B) in type A-responsive cervical dystonia.

OBJECTIVE: To determine the safety and efficacy of botulinum toxin type B (BoNT/B) in patients with cervical dystonia (CD). BACKGROUND: BoNT/B is a form of chemodenervation therapy for the treatment of patients with CD. METHODS: The authors performed a 16-week, randomized, multicenter, double-blind, placebo-controlled trial of BoNT/B in patients with CD who continue to respond to botulinum toxin type A. Placebo, or 5,000 U or 10,000 U of BoNT/B was administered in two to four muscles involved clinically in CD. The Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS)-Total score at week 4 was the primary efficacy measure. Clinical assessments and adverse events were recorded for treatment day 1 and at weeks 2, 4, 8, 12, and 16. RESULTS: A total of 109 patients were enrolled randomly across all three treatment groups. The mean improvement in the TWSTRS-Total scores in each group at week 4 was 4.3 (placebo), 9.3 (5,000 U), and 11.7 (10,000 U). For the prospectively defined primary contrast (10,000 U versus placebo), highly significant differences were noted for the primary (TWSTRS-Total, baseline to week 4, p = 0.0004) and supportive secondary (Patient Global Assessment, baseline to week 4, p = 0.0001) outcome measures. Improvement in pain, disability, and severity of CD occurred for patients who were treated with BoNT/B when compared with placebo-treated patients. Overall, improvements associated with BoNT/B treatment were greatest for patients who received the 10,000-U dose. The duration of treatment effect for BoNT/B was 12 to 16 weeks for both doses. CONCLUSION: Botulinum toxin type B (NeuroBloc) is safe and efficacious at 5,000 U and 10,000 U for the management of patients with cervical dystonia.

Adult↗
PubMed1983

Scarring around cervical epidural stimulating electrode.

Scarring around the electrically stimulating electrodes has been of concern since dorsal column stimulation was introduced. This concern resurfaced in the days of cerebellar electrodes and, with the advent of epidural stimulating techniques for the control of pain and spasticity, it again arises as a potential problem. We present a patient who underwent the placement of a C-2-C-4 electrode to treat torticollis; 3 months later, a mild spastic quadriparesis developed and the stimulation became ineffective. At reexploration, dense scar surrounded the electrode and confined the cervical spinal cord. With microdissection techniques, the scar was removed from the dura mater and the dura began to pulsate freely. The quadriparesis reversed. Examination of the scar tissue microscopically showed linearly arrayed fibroblastic nuclei, and we are uncertain whether the exuberant fibroblastic response is a response to electrical stimulation, the materials used in the electrode, or some technical aspects of the operation.

Adult↗
PubMed1985

Head tilt in rabbits caused by pasteurellosis and encephalitozoonosis.

Rabbits (Oryctolagus cuniculus) of non-dwarf (Group A) and dwarf (Group B) strains showing a common clinical sign of head tilt (torticollis) were examined. With 1 exception, all rabbits of group A had otitis and empyema of either one or both middle ears. Pasteurella multocida was isolated from pus and from the nose of all but 1 of these rabbits, and on occasion was also isolated from the brain. By contrast in all dwarf rabbits the presence of the protozoan Encephalitozoon cuniculi was confirmed both histologically and serologically. This parasite did not affect the ears of the animals but rather the central nervous system. We assume that the different exposure to both agents, rather than the degree of susceptibility, was responsible for the differences found between the 2 types of rabbits.

Animals↗
PubMed1983

Cervical vertebrae subluxation.

Rotary subluxation of the atlantoaxial joint is an uncommon complication of head and neck surgery and infections. Reported sequelae of this disorder range from torticollis to death from compression of the spinal cord. Two cases of C1-C2 rotary subluxation will be discussed. These complications occurred following otitis media, repair of choanal atresia, and an adenoidectomy. The literature is reviewed.

Atlanto-Axial Joint↗
PubMed1984

The hip in the moulded baby syndrome.

The moulded baby syndrome comprises: head moulding (plagiocephaly); pelvic obliquity with unilateral loss of hip abduction in flexion; and occasionally scoliosis, torticollis and bat ears. The hips, however, are radiologically normal and do not require the treatment used in the management of congenital dislocation or dysplasia. A review of 67 hips confirms this finding.

Female↗
PubMed1999

Multiple-birth infants at higher risk for development of deformational plagiocephaly.

OBJECTIVE: Deformational plagiocephaly refers to the development of an abnormal head shape in infants resulting from externally applied molding forces, which may occur either prenatally or postnatally. We have observed that an unexpectedly high number of multiple-birth infants have presented to our center with this condition. The purposes of this investigation were to: 1) determine the significance of this observation; and 2) examine the risk factors that may make this population more susceptible to the development of plagiocephaly. MATERIALS AND METHODS: A retrospective review of our database was performed to identify those infants who were of multiple-birth origin. The parents of these infants were contacted by phone to complete a survey regarding the prenatal and postnatal history of their child. Similar information was obtained for the state of Arizona from the Office of Vital Statistics. A chi2 analysis was used to compare the incidence of multiple births in Arizona with the incidence of multiple births in our treatment population. RESULTS: Between 1993 and 1996, 69 (8.6%) of the 801 infants treated for deformational plagiocephaly at our Phoenix center were of multiple-birth origin. Four infants who had been treated postoperatively after surgery for craniosynostosis, as well as 5 patients who had been referred from out of state, were excluded from further study. The chi2 analysis of the remaining 60 patients confirmed that a statistically significant number of plural-birth infants had presented with deformational plagiocephaly. Four risk factors were identified as having occurred at high frequency in this population: in utero constraint, supine sleeping position, torticollis, and prematurity. CONCLUSIONS: The current findings of this investigation confirm that a significant number of multiple-birth infants have presented to our clinic with deformational plagiocephaly. Compared with their singleton counterparts, plural infants seem to be at higher risk for the development of deformational plagiocephaly, because they are more likely to be exposed to multiple risk factors.deformational plagiocephaly, multiple birth, plurality.

Female↗
PubMed2002

Multiple-birth infants at higher risk for development of deformational plagiocephaly: II. is one twin at greater risk?

OBJECTIVE: In part 1 of this investigation, we demonstrated that children of multiple birth pregnancies are at higher risk for development of deformational plagiocephaly. In the current investigation, we explore whether certain prenatal and postnatal risk factors predispose one twin over the other by examining the occurrence and severity of plagiocephaly in both discordant (only 1 affected) and concordant (both affected) twin pairs. METHODS: Throughout 1999, we obtained detailed medical histories on 140 sets of twins who had presented for treatment at 1 of 9 treatment centers across the United States. The study cohort consisted of 46 concordant and 94 discordant twin pairs (a total of 280 study participants). Information about prenatal and postnatal history of each infant was obtained through detailed review of the children's medical records as well as analysis of a patient database maintained on all infants who receive treatment. Follow-up interviews were performed to verify the information recorded and to obtain additional information about the child who had not received treatment (if appropriate) or use of reproductive assistance (fertility drugs, intracytoplasmic sperm injection, etc) that had not been previously recorded. Statistical analyses were performed to assess the effects of prenatal and postnatal risk factors (in utero position, in utero orientation, birth weight, neck involvement, sleeping position) with respect to which infant was affected in the discordant twin pairs and to which infant was more severely affected in the concordant twin pairs. RESULTS: Statistical analyses of both discordant and concordant twin pairs demonstrated that the lower in utero infant was significantly more likely to be affected (chi(2) = 17.391). In addition, the more severely affected infant was significantly more likely to have some form of neck involvement (torticollis, neck tightness; chi(2) = 46.380), as well as have been carried in a vertex position (chi(2) = 7.408). Conversely, neither sleeping position nor gender was found to be associated with development of plagiocephaly. CONCLUSIONS: The results of this investigation strongly support an in utero cause of plagiocephaly and demonstrate that intrauterine positioning may play a prominent role in determining both the occurrence and severity of deformational plagiocephaly in twins. These findings confirm that the lower in utero infant is at increased risk for the development of plagiocephaly, likely resulting from the more restrictive intrauterine environment encountered during the later part of the pregnancy.

Abnormalities, Multiple↗
PubMed2005

Respiratory failure and hypercoagulability in a toddler with Lemierre's syndrome.

A 3.5-year-old healthy boy with 4 days of fever was referred to the emergency department for respiratory distress. The physical examination was remarkable for stupor, tachycardia, tachypnea, and dyspnea. Initial blood tests showed pancytopenia. He rapidly developed torticollis. Computerized tomography of the neck revealed a thrombus in the internal jugular vein. A presumptive diagnosis of Lemierre's syndrome was made and he was started on antibiotics and anticoagulation. He subsequently developed adult respiratory distress syndrome and required high frequency oscillatory ventilation for 9 days. Blood cultures were positive for Fusobacterium necrophorum. Screening for hypercoagulability revealed 2 known risk factors: a mutation in the prothrombin gene and elevated lipoprotein a.

Child, Preschool↗
PubMed2005

Neuroimaging in human dystonia.

Functional neuroimaging, such as positron emission tomography (PET) and functional magnetic resonance imaging (fMRI), provides a valuable technique for detecting regional changes in brain metabolic activity associated with human disease. These techniques have been applied in different dystonic disorders including primary generalized dystonia and dopa-responsive dystonia (DRD), as well as focal dystonic syndromes such as torticollis, writer's cramp, and blepharospasm. A common finding is abnormality of the basal ganglia and associated outflow pathways to sensorimotor cortex and other regions involved with motor performance. Other recent imaging research has utilized diffusion-based MRI techniques to localize distinct microstructural abnormalities in dystonia patients and gene carriers. This presentation will focus on an integrated approach to understanding the pathophysiology of this genetic and biochemically diverse disorder.

Anisotropy↗
PubMed2002

Botulinum toxin B: a review of its therapeutic potential in the management of cervical dystonia.

UNLABELLED: Botulinum toxins are well known as the causative agents of human botulism food poisoning. However, in the past two decades they have become an important therapeutic mainstay in the treatment of dystonias including cervical dystonia, a neurological disorder characterised by involuntary contractions of the cervical and/or shoulder muscles. The toxins inhibit acetylcholine release from neuromuscular junctions, producing muscle weakness when injected into dystonic muscles. Data from three double-blind, randomised, placebo-controlled trials demonstrate that botulinum toxin B effectively reduces the severity, disability and pain of cervical dystonia. In two of the trials, mean Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS)-Total score at week 4 (primary efficacy measure) after botulinum toxin B 10 000U was reduced by 11.7 (25%) or 11 (21%) compared with baseline. These changes were significantly greater than those obtained with placebo [4.3 (10%) or 2 (4%)] and were generally similar in patients who were responsive or resistant to botulinum toxin A. Statistically significant benefits compared with placebo were also evident for a range of other efficacy parameters including TWSTRS-Severity, -Pain and -Disability subscales, patient- assessed pain and patient-/physician-assessed global improvement ratings. In another trial, the percentage of patients with botulinum toxin A-resistant or -responsive cervical dystonia who had a > or =20% improvement in the TWSTRS-Total score between baseline and week 4 was significantly higher with botulinum toxin B 2500 to 10 000U (58 to 77%) than with placebo (27%). Overall, botulinum toxin B was generally well tolerated. The most frequently reported treatment-related adverse events were dry mouth and dysphagia. Most adverse events in patients receiving botulinum toxin B were mild or moderate; no serious adverse events or laboratory abnormalities were associated with the use of botulinum toxin B and, where reported, no patients discontinued from any of the clinical trials as a result of adverse events. CONCLUSIONS: Botulinum toxin B has shown clinical efficacy in patients with cervical dystonia at doses up to 10 000U and is generally well tolerated. Its efficacy extends to patients who are resistant to botulinum toxin A. Although the potential for secondary resistance to botulinum toxin B remains unclear, it may occur less than with botulinum toxin A because methods for manufacturing commercially available botulinum toxin B do not include lyophilisation and the product does not require reconstitution before use. As injection with botulinum toxin is generally considered the treatment of choice for patients with cervical dystonia, botulinum toxin B should be considered a potential treatment option in this setting.

Animals↗
PubMed1976

An unusual case of subluxation of C.3-C.4.

A case is reported of spontaneous subluxation of C.3 on C.4 in a 6-year-old boy due to an upper respiratory infection after surgical treatment for muscular torticollis.

Cervical Vertebrae↗
PubMed2004

The Canadian multicenter trial of pallidal deep brain stimulation for cervical dystonia: preliminary results in three patients.

OBJECT: Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is beneficial for generalized dystonia and has been proposed as a treatment for cervical dystonia. The Canadian Stereotactic/Functional and Movement Disorders Groups designed a pilot project to investigate the following hypothesis: that bilateral DBS of the GPi will reduce the severity of cervical dystonia at 1 year of follow up, as scored in a blinded fashion by two neurologists using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). Secondary outcome measures included pain and disability subscores of the TWSTRS, Short Form-36 quality of life index, and the Beck Depression Inventory. METHODS: Three patients have undergone surgery in Calgary with a follow-up duration of 7.4 +/- 5.9 months (mean +/- standard deviation). One patient underwent inadvertent ineffective stimulation for the first 3 months and did not experience a benefit until DBS programming was corrected. All three patients had rapid response to stimulation, with the muscles relaxing immediately and abnormal movements improving within days. Total TWSTRS scores improved by 79%, and severity subscores improved significantly, from 15.7 +/- 2.1 to 7.7 +/- 2.9 (paired t-test, p = 0.02). Pain and disability subscores improved from 25.5 +/- 4.1 to 3.3 +/- 3.1 (paired t-test, p = 0.002) and from 13.3 +/- 4.9 to 3.3 +/- 4.2 (paired t-test, p = 0.06), respectively. CONCLUSIONS: Although it is too early to reach broad conclusions, this report of preliminary results confirms the efficacy of DBS of the GPi for cervical dystonia.

Amitriptyline↗
PubMed2001

Anomalous vertebral artery-induced cervical cord compression causing severe nape pain. Case report.

The authors describe a very rare case of cervical cord compression caused by anomalous bilateral vertebral arteries (VAs). A 65-year-old woman had been suffering from intractable nape pain and torticollis. Magnetic resonance imaging revealed a signal void region in which spinal cord compression was present. Angiography demonstrated anomalous bilateral VAs compressing the spinal cord. Microvascular decompressive surgery was successfully performed. Neuroradiological and intraoperative findings are presented.

Aged↗
PubMed2006

Pathognomonic radiological signs for predicting prognosis in patients with chronic atlantoaxial rotatory fixation.

OBJECT: The authors conducted a study to assess the correlation between radiological features and clinical courses in patients with chronic atlantoaxial rotatory fixation (AARF) and to determine diagnostic imaging signs for predicting prognosis. METHODS: There were 24 patients (eight boys and 16 girls) whose mean age was 7.8 years (range 4-14 years) and in whom AARF was diagnosed. The mean follow-up duration was 3.7 years (range 5 weeks-12 years). There were two groups of patients: 15 patients who visited the hospital less than 8 weeks after symptom (torticollis) onset comprised the acute group, and nine patients in whom the diagnosis of AARF was established later than 3 months after symptom onset comprised the chronic group. The chronic group was divided into two subgroups: those in whom the closed reduction could be achieved and those in whom it could not. Clinical data and radiographic studies, including plain radiographs and plain and three-dimensional (3D) computed tomography (CT) reconstructions, were reviewed retrospectively. A deformity of the superior C-2 facet joint was frequently observed in the group of patients with chronic AARF (p < 0.0001). This sign represented a risk factor for recurrent dislocation (p = 0.0003, Fisher exact test). Prominent lateral inclination of C-1 was an impeding factor for reduction of chronic AARF (p < 0.0001, analysis of variance with Fisher post hoc test). Greater than 20 degrees of lateral inclination of the atlas indicated an irreducible subluxation (p = 0.0023, Fisher exact test). CONCLUSIONS: Both facet joint deformity and lateral inclination observed on 3D CT reconstructions can be useful signs to predict the prognosis and the treatment of choice in patients with chronic AARFs.

Adolescent↗
PubMedDate not supplied

Large bilateral medial rectus recession in early esotropia with bilateral limitation of abduction.

Large bilateral medial rectus recession was performed in a group of 85 patients presenting early large angle esotropia with bilateral limitation of abduction. The results obtained after three postoperative years demonstrated that the proposed method not only corrects the angle of deviation but significantly improves abduction and consequently torticollis. In spite of the large recession performed, both adduction and convergence were not significantly affected.

Child, Preschool↗