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PubMed1982

Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus.

The syndrome of torticollis, keloids, cryptorchidism and renal dysplasia was described by Goeminne (1968) in a large family, and listed as X-linked incomplete dominant by McKusick (1978; No. 31430). We mapped the locus on the long arm of the X chromosome at band q28 and distal to the G6PD locus. This was achieved by the chance discovery in the literature that two females, each with a balanced X/autosome translocation involving Xq28, had partial manifestation of the syndrome as was the case with the females in the larger family of Goeminne (1968).

Abnormalities, Multiple↗

PubMed1993

Congenital muscular torticollis: long-term follow-up of thirty-eight partial resections of the sternocleidomastoid muscle.

Thirty-eight patients with muscular torticollis were treated by a partial resection of the sternocleidomastoid muscle between 1970 and 1981. Clinical evaluations were performed on 35 of these patients who were followed up for 10 years (average of 11.3 years). Of 31 patients under 5 years of age at operation, good results according to Canale's criteria were obtained in 28 (90%). In four patients aged 6 years or more at operation, three showed good results. Postoperatively, massive cotton bandaging was applied with the neck in the neutral position for 3 weeks. A plaster cast, brace, or physiotherapy involving active motion training was not necessary.

Adolescent↗

PubMed1986

Idiopathic muscular torticollis in adults. Results of open sternocleidomastoid tenotomy.

Eight adult patients who underwent open tenotomy for idiopathic muscular torticollis were evaluated with an average follow-up of 14 years. The age of the patients at operation ranged from 20 to 37 years, with an average of 26 years. The sternal head of the sternocleidomastoid muscle was divided in two patients, both the sternal and the clavicular heads were divided in five patients, and in one patient all three heads were divided. After the operation a Minerva plaster cast was applied with the head hyperextended, bent away from the deformity, and rotated towards the deformity. Neurovascular complications were not observed. Facial asymmetry did not improve after surgery, but at follow-up all the patients had a satisfactory range of motion of the neck, although the radiographic alterations of the cervical spine present before the operation had not improved.

Adult↗

PubMed1993

Acute torticollis in children due to atlanto-axial rotary fixation.

Acute, painful torticollis in a child is not uncommon. When no local changes can explain the disease, atlanto-axial rotary fixation should be considered. The position of the head is typical but the roentgenological diagnosis is difficult, and as early treatment is mandatory, it should be initiated even if the roentgenogram is "normal". We present a review of nine patients.

Acute Disease↗

PubMed1996

Impairment of visuospatial function in idiopathic spasmodic torticollis.

We studied visuospatial function in 15 patients with idiopathic spasmodic torticollis (ST) and 15 age- and sex-matched controls. All subjects underwent a battery of visuospatial tests, assessing different functional components of spatial ability. The performance of ST patients on tasks of spatial perception did not significantly differ from that of normal subjects, but patients performed significantly worse on spatial tasks requiring mental manipulation of personal space. This distinct pattern of visuospatial impairment may result from basal ganglia dysfunction.

Adult↗

PubMed1993

Swallowing, speech, and brainstem auditory-evoked potentials in spasmodic torticollis.

To explore the controversial "brainstem theory" of spasmodic torticollis, eight consecutively referred patients were examined. Three independent examinations were conducted on the same day: a videofluoroscopic barium swallowing examination, an instrumental speech examination, and a brainstem auditory-evoked potential (BAEP) analysis. Swallowing was normal in two patients; speech physiology, in five; and BAEPs, in all. Normal BAEPs refute the brainstem theory, while abnormalities of speech and swallowing temper this conclusion. Several alternative explanations are proposed.

Adult↗

PubMed1995

Microvascular decompression for spasmodic torticollis.

Twenty patients with spasmodic torticollis (ST) were treated by microvascular decompression (MVD) of the spinal accessory nerves, the upper cervical nerve roots and the brainstem. Thirteen were female and seven male. Median age was 47 years (range 39 to 70 years). Median duration of symptoms was 5 years (range 4 months to 17 years). Ten had right horizontal; nine, left horizontal; and one, retrocollis ST. Twenty-two operations were performed on twenty patients, suboccipital craniectomy and C1 laminectomy in 18 and retromastoid craniectomy in 4 operations. The most common compressing blood vessels were the vertebral artery and/or the posterior inferior cerebellar artery. No nerve section was performed. Three patients died of unrelated conditions, 3, 5 1/2, and 6 years postoperatively, respectively. Minimum follow-up period in the rest of the cases is 5 years (range 5 to 10 years). Thirteen (65%) were cured, four (20%) improved with minimal spasm, one (5%) improved with moderate spasm, and two (10%) improved minimally or unchanged. In most cases the cure or improvement was noticed gradually over 6 months to two years following the operation. There was no operative mortality. Postoperative morbidities included transient cerebrospinal fluid leakage through the surgical incision in one case and an apparent multiple small vessel stroke involving periventricular white matter in one reoperation case with full recovery. MVD for ST is a nondestructive benign procedure with high probability of cure or significant improvement.

Accessory Nerve↗

PubMed1982

Brainstem auditory evoked potentials in a case of 'Manto syndrome', or spasmodic torticollis with thoracic outlet syndrome.

A case of spasmodic torticollis with thoracic outlet syndrome observed for over 18 months is presented and discussed. Maximal head rotation (determining backward gaze) was associated with compression of the brachial plexus between the scaleni muscles and motor, sensory and trophic troubles in the hand. This new syndrome is called after the diviner Manto, quoted by Dante Alighieri in his 'Divina Commedia' (Inferno, XX, 52-56). The etiology was ascribed to subacute toxic effects of methylparathion. Brainstem Auditory Evoked Potentials (BAEPs) demonstrated severe brainstem involvement, maximal in the mesencephalic structures. Clinical and neurophysiological data improved on treatment with L-5-hydroxytryptophan. Finally, BAEPs returned to normal.

5-Hydroxytryptophan↗

PubMed1993

Striatal [11C]-N-methyl-spiperone binding in patients with focal dystonia (torticollis) using positron emission tomography.

Specific binding of [11C]-N-methyl-spiperone to striatal dopamine D2 receptors was assessed using positron emission tomography (PET) in 6 patients with adult-onset focal dystonia (predominantly spasmodic torticollis) and in 5 healthy subjects. No significant difference in average specific striatal tracer uptake between patients and healthy subjects was found. However, in the 5 patients showing lateralisation of clinical signs a trend to higher striatal tracer uptake in the contralateral hemisphere was observed.

Adolescent↗

PubMed1990

Botulinum A toxin treatment for eyelid spasm, spasmodic torticollis and apraxia of eyelid opening.

Botulinum-A toxin (botAtox) was used in the treatment of blepharospasm (BS), idiopathic hemifacial spasm (HFS), idiopathic spasmodic torticollis (ST) and apraxia of eyelid opening (AEO). The injection of 7.5-30 U botAtox per eye spread over 3 or 4 sites in the palpebral part of orbicularis palpebrae (OP) reduced palpebral spasm in 12/13 cases of BS and in 7/8 cases of HFS. The effect lasted for 14.5 weeks on average (range 4-30 weeks). Palpebral ptosis (lasting 1-3 weeks) was the most frequent side effect (16/107 eyes treated) but was not related to dose of botAtox or number of inoculation sites. Injection of 60-160 U botAtox into the sternocleidomastoid, trapezius and splenius capitis muscles reduced ST objectively in 1/4 patients for about 4 weeks. In the other patients the reduction or abolition of the hypertrophy of the previous hyperactive muscles was accompanied by persistence or rearrangement of the dystonia pattern, suggesting a change in the pattern of activity of the neck muscles after botAtox. 5 U botAtox per eye spread over 4 sites in the OP significantly reduced the frequency of the episodes of involuntary eyelid closure in 2 patients with AEO but not BS. The therapeutic effect lasted for 7 months after the first treatment and for 8 months after the second in a 46 year old woman with a 6 month history while the second patient (72 year old parkinsonian) has now completed her 3rd month of treatment.

Adult↗

PubMed1994

Effects of clozapine on CSF homovanillic acid in spasmodic torticollis.

We studied the effect of the atypical neuroleptic clozapine (CLO) on homovanillic acid (HVA) in cerebrospinal fluid (CSF) in five patients with spasmocid torticollis. Lumbar puncture was performed before and on the seventh day of CLO treatment. Although an HVA elevation was to be expected because of the antidopaminergic action of CLO, statistical analysis failed to reveal any significant increase of HVA under CLO treatment. Thus significance of CSF HVA may be less important for the description of antidopaminergic action of neuroleptics than previously assumed.

Adult↗

PubMed1991

Postoperative opisthotonus and torticollis after fentanyl, enflurane, and nitrous oxide.

Most drug-induced extrapyramidal symptoms are due to blockade of dopaminergic receptors and are treated with anticholinergic drugs. We report a patient with severe postoperative extrapyramidal symptoms which responded to physostigmine and indicated a different aetiology. A young, healthy female outpatient developed severe extrapyramidal symptoms after an uneventful 50 min anaesthetic with thiopentone, fentanyl (100 micrograms), enflurane, and nitrous oxide. Although the trachea was not extubated until she obeyed commands, the patient developed opisthotonus, which resolved initially after treatment with thiopentone (40 mg), diazepam (5 mg), and diphenhydramine (50 mg). The opisthotonus recurred approximately 25 min later, in association with torticollis, obtundation, and periodic apnoea. A tentative diagnosis of central anticholinergic syndrome was proposed, and fentanyl was considered to have been responsible. Naloxone (0.4 mg) induced no improvement, but physostigmine (2 mg) reversed the dystonic symptoms and periodic apnoea and improved her mental status. The response to physostigmine may have been due specifically to increased levels of acetylcholine at the cholinergic receptors, or to a nonspecific analeptic effect.

Adult↗

PubMed1999

[Torticollis spasmodicus, blepharospasm and hemifacial spasm. Subjective evaluation of therapy by patients].

Injections with botulinum toxin type A (BTX) are considered the first-line treatment for spasmodic torticollis (ST), blepharospasm (BL) and hemifacial spasm (HFS). Because BTX brings only temporary and partial relief, patients frequently try other additional therapies to minimize their symptoms. The subjective rating of all therapies ever tried by patients with ST, BL and HFS was evaluated by using a simple questionnaire. Two hundred questionnaires were considered (112 TS, 54 BL, 34 HFS). BTX was rated subjectively the best therapy in all three diagnostic groups (median: 2 = good effect). Despite Citalopram and physiotherapy (median: 3 = average effect), all other therapies were rated with a median of > or = 4 (= minimal effect). Patients with ST tried 7.7, patients with BL 2.4 and patients with HFS 2.6 different types of therapy. In conclusion, BTX is the most effective treatment for patients with ST, BL and HFS, as rated subjectively. Further evaluation of therapies additional to BTX injections is recommended.

Blepharospasm↗

PubMed2001

Proton MR spectroscopy in idiopathic spasmodic torticollis.

Single-voxel proton magnetic resonance spectroscopy (1H-MRS), localised to the basal ganglia, was used to determine changes in metabolite levels in idiopathic spasmodic torticollis (IST). We examined nine patients and 13 healthy subjects. The mean values (+/- SD) of peak area ratios were: IST: N-acetyl-aspartate (NAA)/choline-containing compounds (Cho) 1.79 +/- 0.39, NAA/creatine and phosphocreatine compounds (Cr) 1.61 +/- 0.38, Cho/Cr 0.91 +/- 0.19; controls: NAA/Cho 2.07 +/- 0.35, NAA/ Cr 1.82 +/- 0.31, Cho/Cr 0.89 +/- 0.12. Statistical analysis showed that NAA/Cho and NAA/Cr were significantly lower in patients than in controls (P = 0.0304 and 0.0431, respectively). These results indicate a reduction in NAA, and suggest striatal involvement in the pathogenesis IST.

Adolescent↗

PubMed2003

Idiopathic spasmodic torticollis is not associated with abnormal kinesthetic perception from neck proprioceptive and vestibular afferences.

Proceeding from recent evidence for a sensory involvement in the pathophysiology of idiopathic spasmodic torticollis (ST), we asked whether the abnormal head posture of these patients is associated with distortions of their internal spatial reference frames due to abnormal processing of neck proprioceptive and/or vestibular input. Twelve ST patients were instructed to estimate, by adjusting a light pointer in the dark, their head and trunk mid-sagittal directions (as representatives of ego-centric references) and to reproduce a remembered target location in space (space centric reference). They did so before and after horizontal head and trunk rotations, which evoked isolated or combined vestibular and/or neck stimulation. In ST patients, unlike in normal controls, pre-stimulus estimates of the head and trunk mid-sagittal directions (baselines) showed a pronounced across-subjects variability, with essentially normal mean values. Their post-stimulus estimates in all tasks, after correction for the individual baseline errors, were normal with respect to both amplitude and variability, independent of stimulus direction, modality and rotation dynamics. Our findings suggest that ST patients have a rather inaccurate knowledge of their head posture, but can effectively use neck proprioceptive input and vestibular cues when estimating head and trunk displacements in ego-centric and space centric spatial orientation tasks. We propose that an offset of a non-sensory set point signal in the neck proprioceptive loop for head-on-trunk control may be responsible for the pathological head deviation in ST.

Adult↗

PubMed1991

Behavior therapy for spasmodic torticollis: a case study suggesting a causal role for anxiety.

A 29-year old male with an 8-month history of spasmodic torticollis was treated after three baseline assessments with progressive relaxation, positive practice, and visual feedback. Subjective, behavioral, and physiological (EMG) data indicated that EMG declined across baseline assessments and treatment, while substantial changes in subjective and behavioral data occurred with treatment. Improvement on all dependent measures also was found at a 2-year follow-up. The data are discussed in terms of the non-specific effects of treatment, and the utility and economy of these primarily self-administered procedures.

Adult↗

PubMedDate not supplied

Idiopathic muscular torticollis in children: the Cape Town experience.

54 cases of Idiopathic Muscular Torticollis (IMT) referred for surgery over a 23-year period and 134 cases referred for physiotherapy over a 5-year period have been reviewed. Long-term cosmetic and functional results for 30% of the surgical cases are presented, with a mean follow-up time of 10.5 years. Demographic features, the role of physiotherapy, the timing of surgery and serial assessment are discussed and results are compared with similar studies from other centres. Locally, of the 134 cases referred primarily for physiotherapy, 36% defaulted from treatment, 60% enjoyed lasting benefit and 4% required subsequent surgical intervention. In the surgical cases, while early surgery appears preferable, delayed operation, even up to the ages of 4 or 5 years did not seem to prejudice long-term results, providing that the advent of facial hemihypoplasia did not precede surgery. Delay beyond this point, or roughly 6 or 7 years of age, would seem to prejudice function and/or cosmesis.

Age Factors↗

PubMed1995

Posterior cervical torticollis caused by birth trauma.

A case of posterior cervical torticollis is described. This is an unusual manifestation of this common condition. In addition, evidence is given to support birth trauma as the etiologic factor in this problem.

Birth Injuries↗