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PubMed1982

Congenital postural deformity association.

The so-called congenital postural deformities were evaluated in the material of the Hungarian Congenital Malformation Registry, 1970-1976. Seven categories of postural deformities: dislocation of the hip, clubfoot, torticollis, musculoskeletal, other limb, face-nose and auricular were separated. The occurrence of the combination of dislocation of the hip, clubfoot and torticollis is manifold of random combination. These three postural deformities, however, are not associated more often with other nonpostural type abnormalities. Thus the congenital postural deformity association composed of two or more combinations of dislocation of the hip, clubfoot and torticollis without other major congenital abnormalities is treated as a provisional entity. Its birth prevalence is 0.4 per 1000 total births thus after Down syndrome it is the second common type of multiple congenital abnormalities. The aetiology and its higher sib-occurrence are explained by intrauterine maternal moulding factors.

Abnormalities, Multiple↗

PubMed1998

Masked rotatory subluxation of the atlas associated with fracture of the clavicle: a clinical and biomechanical analysis.

We report on two children who developed a fixed rotatory subluxation of the atlantoaxial joint due to torticollis being attributed to a fractured clavicle. Appropriate treatment was delayed for weeks to months; only after the fractured clavicle had healed and the torticollis persisted was the problem identified. Persisting rotatory subluxation also predisposes to further anterior displacement of C-1 due to an increased moment arm created by the forward displacement of the center of gravity of the head. The association of atlantoaxial subluxation should always be considered in children presenting with a clavicular fracture and an acute torticollis.

Atlanto-Axial Joint↗

PubMed2002

Pediatric migraine equivalents: occurrence and clinical features in practice.

Migraine equivalents of infancy, childhood, and adolescence are recognized periodic, paroxysmal syndromes without associated headache that are thought to be migrainous in etiology. Five such equivalents are presently recognized. Their clinical features and relative frequency in ambulatory pediatric neurology practice have not been well documented. Utilizing a comprehensive, standardized computer database, the occurrence of these migraine equivalents in a single pediatric neurology practice together with their observed clinical features were documented over an 8-year period. Of a total of 5,848 patients in the database, of whom 1,106 were migraineurs, 108 patients (1.8% of total, 9.8% of migraineurs) were identified to have migraine equivalents. The following distribution among migraine equivalents was observed: benign paroxysmal torticollis 11 (10.2% of patients with migraine equivalents), benign paroxysmal vertigo 41 (38%), abdominal migraine/cyclical vomiting 20 (18.5%), acephalgic migraine 31 (28.7%), and acute confusional migraine 5 (4.6%). In each type, with the exception of benign paroxysmal torticollis and acute confusional migraine, females clearly predominated, and in all types a strong positive family history of migraine was elicited (68%-100%). There was variation in the age of onset of a particular equivalent with considerable overlap observed. Coexisting more typical migraines were observed in from 10% (benign paroxysmal torticollis) to 70% (abdominal migraines/cyclical vomiting) of the cases. In conclusion, pediatric migraine equivalents occur with relative frequency in ambulatory practice, possessing discrete clinical features that have a clear relationship to more typical migrainous phenomena.

Adolescent↗

PubMed2000

Facial asymmetry in superior oblique muscle palsy and pulley heterotopy.

INTRODUCTION: Some observers have considered facial asymmetry as characteristic of congenital superior oblique muscle (SO) palsy. However, recent orbital imaging studies have determined that incomitant vertical strabismus resembling SO palsy can be caused by heterotopic rectus muscle pulleys. This finding suggests that facial asymmetry may predict the presence of abnormal orbital anatomy rather than be secondary to ocular torticollis. METHODS: Subjects who underwent orbital computed tomography or magnetic resonance imaging were divided into 5 groups based on clinical evaluation and previously established imaging criteria: (1) congenital SO palsy; (2) acquired SO palsy; (3) strabismus with pulley heterotopy; (4) strabismus without SO palsy or pulley heterotopy; and (5) orthotropic subjects. Frontal photographs were digitized and the following 3 facial morphometric features recorded: (1) angle of inclination of each orbit; (2) relative facial size; and (3) facial angle. RESULTS: The 79 subjects who underwent imaging were divided into the 5 groups as follows: 6 with congenital SO palsy; 7 with acquired SO palsy; 20 with pulley heterotopy; 26 with strabismus without SO palsy or pulley heterotopy; and 20 control subjects. All subjects with either congenital or acquired SO palsy had torticollis. Multivariate analysis demonstrated no significant differences in any of the 3 facial morphometric features among any of the groups. CONCLUSION: Facial asymmetry as assessed by these 3 morphometric features is not useful in distinguishing between congenital SO palsy or pulley heterotopy and other acquired forms of strabismus. This finding casts doubt on the relationship between ocular torticollis and facial asymmetry.

Adolescent↗

PubMedDate not supplied

Treatment of patients with tardive dystonia with olanzapine.

Tardive dystonia represents a complication of long-term use of neuroleptics and its treatment is often unsatisfactory. Atypical neuroleptics appear to improve tardive dystonia, and cases of tardive dystonia successfully managed with clozapine have been reported. The aim of this open-label video-blinded study was to evaluate the antidystonic efficacy of olanzapine, a new atypical neuroleptic with a low risk of agranulocytosis, in a group of four patients (one man and three women) with tardive cervical dystonia. They developed severe dystonia after several years of neuroleptic treatment. Extensive laboratory evaluations, as well as neurophysiologic and neuroradiologic investigations, were negative. Olanzapine was started at a dose of 5 mg/d and increased up to 7.5 mg/d. All patients were evaluated at baseline and after 2, 4, 8, and 12 weeks of treatment, using the Toronto Western Spasmodic Torticollis Rating Scale, and videotaped. At the end of the trial, the videotapes were reviewed and scored by a blind observer. A self-rating visual analog scale completed the disability evaluation.A moderate to marked improvement in dystonia was observed in all patients, and significant differences were observed in Toronto Western Spasmodic Torticollis Rating Scale scores and videotape ratings after 8 and 12 weeks of treatment compared with the basal values (p < 0.05). The average percentage of improvement in Toronto Western Spasmodic Torticollis Rating Scale score and visual analog scale was 26.4% and 42.6%, respectively. No serious side effects were reported at the maximum dosage reached (7.5 mg/d). This study warrants a larger controlled study to conclusively demonstrate the efficacy of olanzapine in tardive dystonia.

Adult↗

PubMed1996

Odontoid fracture and C1-C2 subluxation in psoriatic cervical spondyloarthropathy. A case report.

STUDY DESIGN: Case presentation and review of pertinent literature. OBJECTIVES: To present an unusual case and alert other physicians to possible missed diagnoses. SUMMARY OF BACKGROUND DATA: An unusual case is presented of a young man with server psoriatic spondyloarthropathy and fusion of C2-C7 (Type II cervical psoriatic ankylosing disease) who fell at home, sustaining an unrecognized fracture of the odontoid process leading to subluxation of C1-C2 and the transitory tetraplegia. The patient presented with torticollis, and the fracture was unrecognized for a long period of time. METHODS: Case presentation. RESULTS: This patient became independent in all activities of daily living after surgery and rehabilitation despite persistence of torticollis. CONCLUSIONS: A patient who presents clinically with traumatic torticollis after minor trauma and who also has psoriasis and ankylosis of the cervical spine should be suspected of having a fracture-subluxation until definitely proven otherwise. In the present case, the late diagnosis delayed surgical stabilization.

Adult↗

PubMed1990

H-reflex recovery curve and reciprocal inhibition of H-reflex in different kinds of dystonia.

We studied the H-reflex recovery curve and reciprocal inhibition of the H-reflex bilaterally in the upper limb of 5 patients with generalized dystonia, 5 patients with blepharospasm, 10 patients with spasmodic torticollis, and 14 patients with writer's cramp. We compared the results with those obtained from a group of healthy volunteers. The recovery curve of the H-reflex was normal in patients with writer's cramp or blepharospasm, but showed an increase of the physiologic recovery at a 200 msec delay in patients with spasmodic torticollis or generalized dystonia. Reciprocal inhibition of the H-reflex showed a decrease in the amount of inhibition in all the patient groups and a facilitation of the H-reflex during the 3rd period of inhibition in the patients with spasmodic torticollis or generalized dystonia.

Adult↗

PubMed2000

[Superior oblique sharpening in Brown's syndrome "plus". Results].

PURPOSE: To study the results found in patients with congenital and constant Brown's Syndrome who were surgically treated with superior oblique sharpening technique. METHOD: Nine patients were selected among nineteen cases diagnosed of Brown's Syndrome in our Department for 4 years. Indications for surgery were vertical deviation in primary position and/or torticollis. The procedure of choice was the superior oblique sharpening in all cases, associated to its recession in 3 patients. RESULTS: The limitation of elevation in adduction was notably marked in 100% of the cases, improving in all of them, except in one patient (11.1%) after surgery. The preoperative hypotropia presented in 7 cases (77.8%) was resolved in 5 (71.42%) after the intervention. The initial torticollis had the same incidence than the hypotropia (77.8%: 7/9), but it completely resolved in 3 cases, and improved in 3 other with this technique. Binocular vision was recovered in 2 patients. Overall, 2 out of the 9 cases (22.22%) did not clinically improve. Intraoperative and postoperative complications were not observed, except a temporary superior oblique palsy that resolved without surgery. CONCLUSIONS: The superior oblique sharpening is a good technique which may improve the Brown Syndrome patients with primary position deviation and/or torticollis.

Child, Preschool↗

PubMed1998

Treatment of dystonia with botulinum A toxin: a retrospective study of 170 patients.

OBJECTIVE: Botulinum A toxin has been reported to provide excellent symptomatic relief for patients with dystonia. To analyse the treatment, complications, and outcome of patients receiving botulinum A toxin injection, the case records of 170 patients attending the Botox Clinic at the Kwong Wah Hospital from 1 December 1992 to 31 December 1996 were reviewed. Of these 170 patients, 130 (76.5%) had idiopathic hemifacial spasm, 18 (10.6%) had blepharospasm, 18 (10.6%) had spasmodic torticollis, and 4 (2.4%) had generalised or focal limb dystonia. One hundred and sixty-six (97.6%) patients were Chinese. The average dose of botulinum A toxin required for an optimal response was 14.54 U for those with hemifacial spasm, 49.64 U for those blepharospasm, and 137 U for those with spasmodic torticollis. Among patients with hemifacial spasm, 103 (81.7%) gave a good response, 21 (16.7%) gave a partial response, and there was no response in two (1.6%) patients. The corresponding figures for patients with blepharospasm were 7 (38.9%), 10 (55.6%), and 1 (5.6%), respectively, and for those with spasmodic torticollis, the figure were 6 (37.5%), 6 (37.5%), and 4 (2.5%), respectively. Complications from botulinum A toxin injection were rare (less than 10%), minor, transient, and usually dose-related. In conclusion, idiopathic hemifacial spasm was the most common type of movement disorder encountered in our Botox Clinic and botulinum A toxin injection was safe and effective in the majority of patients.

Journal Article↗

PubMed1990

The blink reflex in patients with idiopathic torsion dystonia.

The blink reflex and its recovery cycle were examined in 57 patients with idiopathic dystonia affecting different parts of the body. The group comprised 9 patients with generalized and 15 with segmental forms, 19 with torticollis, and 14 with focal arm dystonia. None had blepharospasm. The duration and amplitude of the R2 component of the blink reflex showed only minor changes. However, its recovery cycle to paired supraorbital nerve stimuli was abnormal in all groups of patients, except those with focal arm dystonia. These findings may be interpreted as showing abnormal control of the interneuronal networks mediating the blink reflex in patients with dystonia affecting sites other than the facial muscles. The fact that the principal changes were seen in patients with torticollis, and generalized or segmental dystonia, suggests that the extent of dystonia (rather than the severity) and, therefore, the close proximity to the cranial muscles was important in determining the extent of the abnormal interneuron function.

Arm↗

PubMed1987

Localized injections of botulinum toxin for the treatment of focal dystonia and hemifacial spasm.

Medical treatment of dystonia usually results in an incomplete response and is frequently unsuccessful. Peripheral surgical therapy is available for some focal dystonias, but may only offer temporary relief and may have unacceptable complications. We have used local injections of botulinum toxin into the appropriate muscles for treatment of disabling focal or segmental dystonia in 93 patients with torticollis, blepharospasm, oromandibular dystonia (OMD), limb dystonia, lingual dystonia, and dystonia adductor dysphonia, in addition to four patients with hemifacial spasm. Significant relief of motor symptoms was seen in 69% of the patients with blepharospasm and 64% of patients with torticollis; 74% of the latter group with pain experience relief. Relief of symptoms was noted in most patients with OMD and limb dystonia, and all with lingual dystonia, dystonic adductor spastic dysphonia, and those with hemifacial spasm. Benefit averaged 2 1/2-3 months initially; however some patients experienced longer relief with subsequent injections. Adverse effects were transient, although 2 patients developed antibodies against the toxin, and we documented evidence for distant effects in others. This approach of chemically weakening contracting muscles in focal dystonia offers many advantages over pharmacotherapy and surgical therapy. Additional experience is needed to explore the proper doses, and potential for long term adverse effects.

Adult↗

PubMed1991

Idiopathic cervical dystonia: clinical characteristics.

We reviewed detailed clinical features of 266 patients with idiopathic cervical dystonia, commonly called spasmodic torticollis. Mean age at onset (41 years), female-to-male ratio (1.9:1), clustering of onset between ages 30 and 59 (70%), familial history of dystonia (12%), and remissions (9.8%) were similar to those found in previous studies. In contrast to the single prior large clinical study of this disorder, no predominance of right-handers or significant thyroid disease was found. Pain, which occurred in 75% of patients and contributed to disability score (p less than 0.01), distinguishes this syndrome from all other focal dystonias. Pain was also strongly associated with constant (vs. intermittent) head turning, severity of head turning, and presence of spasm. Eighty-three percent of patients had deviation of the head of greater than 75% of the time when sitting with the head unsupported (constant head deviation at rest). Of the 97% who had head turning, 81% also had head tilting in various combinations. The 23% with hand tremor had an older age at onset (mean, 46 vs. 41 years; p less than 0.05). An earlier age at onset (p less than 0.05) was seen in patients with a family history of dystonia (mean, 36 years), with trauma shortly preceding symptoms (mean, 36 years), with a change in the direction of head turning (mean, 30 years), and with remissions (mean, 33 years). Jerky movements or forced transient spasms of the head occurred in 62% of the patients, and these patients would be the ones for whom the designation "spasmodic torticollis" could logically apply.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed1995

Cervical dystonia due to spinal cord ependymoma: involvement of cervical cord segments in the pathogenesis of dystonia.

We report a patient with a progressive motor disorder dominated by pyramidal signs in all four extremities and cervical dystonia in the form of torticollis, who had imaging features of cervical cord tumor on magnetic resonance imaging (MRI) scanning. Ependymoma was the final diagnosis by histology. Cervical dystonia presenting as a manifestation of an identified focal central nervous system (CNS) lesion is infrequent. We believe our patient to be the first adult example of cervical cord tumor giving rise to cervical dystonia. Adding this entity to the list of differential diagnosis of torticollis is considered, and its mechanisms are discussed.

Adult↗

PubMed1997

BotB (botulinum toxin type B): evaluation of safety and tolerability in botulinum toxin type A-resistant cervical dystonia patients (preliminary study).

Botulinum toxin (BTX) injection is considered the treatment of choice for patients with cervical dystonia (torticollis). We conducted a pilot, open-label, dose-escalation study with BTX type B in 12 patients who no longer responded clinically to injections with BTX type A. At the doses tested, BTX type B was safe and well tolerated without evidence of dose-limiting toxicity in this patient population. Mild-to-moderate adverse events generally resolved quickly and included asthenia, pain, nausea, dysphagia, hypertonia, and tremor. No serious adverse events or antibodies to type-B treatment were reported. Low-dosing-session (100-899 units) and high-dosing-session (900-1,500 units) groups were defined based on units administered per dosing session. Toronto Western Spasmodic Torticollis Rating Scale-Severity Scale (TWSTRS-Severity), Patient Analogue Pain Scale, and Physician and Patient Global Assessment Scales were measured during this study. The TWSTRS-Severity mean maximum percent improvement from baseline demonstrated a 9.9% versus 28.8% difference between the low-dose and high-dose groups, respectively. EFfectiveness was noted for the high-dose group on the Patient Analogue Pain Scale but not on the Global Assessment Scales.

Adult↗

PubMed1984

Delayed diagnosis of a spontaneous atlanto-axial rotatory dislocation.

Without any known specific cause a 3-year-old boy developed a torticollis. Although the symptoms were treated immediately there was no improvement. Four months later X-rays showed that the dens-atlas distance was enlarged. In spite of this, he was treated by tenotomy and intensive physiotherapy, but the torticollis remained. Two years later a tomogram and a CT showed a complete rotatory dislocation between atlas and axis. At this stage it was impossible to treat the original cause. Physiotherapy was continued to improve the position of the head.

Atlanto-Axial Joint↗

PubMed1995

A genetic study of idiopathic focal dystonias.

The inheritance of focal dystonias was investigated in 43 families containing 43 index cases with torticollis (n = 21), blepharospasm (n = 18) and writer's cramp (n = 4). They generated a potential population of 235 first-degree relatives, and 168 out of 179 living first-degree relatives were examined. Ten relatives with dystonia were identified in ten families. Another two parents from two of the same group of ten families were affected according to the family history. The majority of the secondary cases (six patients, five siblings, and one child) were not aware of any dystonia. The tendency for affected relatives to have the same type of dystonia as index patients was observed only for torticollis. Overall, 23% of index patients had relatives with dystonia. Segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrance underlying focal dystonia.

Adult↗

PubMed1979

Motor tics of the head and neck: surgical approaches and their complications.

Motor tics of the head and neck, especially hemifacial spasm and spastic torticollis, are the substance of this paper. Forty-six cases are presented, and surgical techniques are described. In hemifacial spasm the intracranial neurovascular lysis of Jannetta is a valid operation with the best results to date but has a 7 1/2% risk of unilateral deafness. The extracranial submastoid partial section of Scoville is completely safe and gives excellent results, but there is a probability of mild to moderate return of the spasm in one to two year's time. In spastic torticollis the accepted radical operation consists of bilateral anterior rhizotomy of the upper three roots plus bilateral spinal accessory nerve section in the neck. A tragic complication of this operation has recently been observed by ourselves, Sweet, and Hamlin. This complication is bilateral infarction of the medulla (bilateral Wallenberg's syndrome). This has also been reported as occurring following chiropractic manipulations. For this reason the writer does limited unilateral sectioning of the spinal accessory nerve in the neck and resection of the upper third of the sternomastoid muscle, as a first stage procedure, in those cases in which rotation of the neck is the principal symptom, before doing the radical operation. Safeguards to prevent this complication include preoperative vertebral arteriography and preservation of both motor and sensory radicular arteries under magnification and maintenance of adequate neck support during the early postoperative days.

Adult↗

PubMed2006

Atlanto-axial rotatory fixation caused by spontaneous intracerebral haemorrhage in a child.

INTRODUCTION: Atlanto-axial rotatory fixation is rare in children and usually associated with upper respiratory tract infection or trauma. We present a patient who developed the condition acutely as a consequence of rapidly evolving hemiplegia secondary to intracerebral haemorrhage. CASE REPORT: A previously well 12-year-old boy suddenly developed left hemiparesis within 30 min. Soon after, he developed painful torticollis. On examination, a dense left hemiplegia was associated with left facial and hypoglossal weakness. On computerised tomography (CT) scan there was an intracerebral haemorrhage in the deep aspect of the right frontal lobe in the corona radiata, with extension in the ventricular system. The plain radiographs of the cervical spine, and CT scan later, confirmed the presence of C1-C2 rotatory subluxation. The haematoma was aspirated stereotactically through a burr hole, and at the same session, the subluxation was reduced by manipulation and traction of the cervical spine. The patient was treated with a hard collar. The torticollis did not recur. The hemiparesis resolved within 6 months. A subsequent magnetic resonance imaging and magnetic resonance angiography scan indicated possible arterio-venous malformation (AVM) at the site of the haemorrhage, which was confirmed with digital subtraction angiography. The AVM was surgically excised 1 year from the original haemorrhage. DISCUSSION: In the absence of any other predisposing factor, it is postulated that the acute atlanto-axial rotatory subluxation was secondary to the acute loss of muscular tone due to the acute hemiparesis. This explains that the subluxation has not recurred a year after, while the hemiparesis has completely resolved.

Angiography, Digital Subtraction↗