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Midbrain control of three-dimensional head orientation.

Little is known about the neural mechanisms controlling head posture and why they fail in clinical syndromes like torticollis. It is well established, however, that the brain controls eye position by integrating eye velocity commands. By electrically stimulating and reversibly inactivating midbrain sites in the head-free (nonimmobilized) monkey, we found that the interstitial nucleus of Cajal functions as a neural integrator for head posture. We suggest that a bilateral imbalance in this structure, through either direct damage or inappropriate input, could be one of the mechanisms underlying torticollis.

Animals↗

The effect of fatigue on abnormal vibration induced illusion of movement in idiopathic focal dystonia.

BACKGROUND: Perception of vibration induced illusionary movement (VIIM) is subnormal in dystonic patients, suggesting abnormal sensory-motor processing in patients with idiopathic focal dystonia. OBJECTIVE: To examine the effects of fatigue on VIIM in patients with idiopathic torticollis. METHODS: An illusionary sensation of arm extension was evoked by an 80 Hz transcutaneous vibratory stimulus applied to the biceps brachii tendon while the arm was restrained. Blindfolded patients attempted to copy the perceived movement of the vibrated arm with the opposite (tracking) arm and the change in elbow angle of the tracking arm was quantified over 45 seconds. The tasks were repeated following volitional fatigue of the vibrated arm. RESULTS: The subnormal perception of VIIM perceived by patients with torticollis, occurring bilaterally and remote from the location of dystonic symptoms, was corrected by fatigue of the vibrated arm compared with prefatigue values (mean (SEM): 19.04 degrees (1.76) degrees v 24.25 degrees (2.41 degrees ); p = 0.01, paired t test). CONCLUSIONS: While a combination of central or peripheral factors may be involved in the correction of abnormal perception of the vibration induced illusion of movement in dystonia, subnormal elasticity of muscle spindles could be implicated in the impaired perception of vibration induced illusionary movement and may predispose an individual towards developing idiopathic focal dystonia.

Adult↗

Role of visual dysfunction in postural control in children with cerebral palsy.

INTRODUCTION: Deficient postural control is one of the key problems in cerebral palsy (CP). Little, however, is known about the specific nature of postural problems of children with CP, nor of the relation between abnormal posture and dysfunction of the visual system. AIM OF THE STUDY: To provide additional information on the association of abnormalities in postural control and visual dysfunction of the anterior or posterior part of the visual system. METHODS: Data resulting from ophthalmologic, orthoptic, neurological, neuro-radiological, and ethological investigations of more than 313 neurologically impaired children were retrospectively analyzed. RESULTS: Abnormal postural control related to ocular and ocular motor disorders consisted of anomalous head control and subsequent abnormal head posture and torticollis. The abnormal postural control related to retrochiasmatical damage of the visual system consisted of a torticollis combined with adjustment of the upper part of the body, as if at the same time adapting to a combination of defects and optimizing residual visual functions. CONCLUSION: Visual dysfunctions play a distinct role in the postural control of children with CP.

Adolescent↗

Methysergide-induced psychosis: case report with long-term follow-up.

Methysergide, a congener of LSD and potent serotonin (5-HT) antagonist, induced a florid transient psychosis resembling an LSD psychosis in a patient with spasmodic torticollis with a family history of schizophrenia. Thirteen years later he developed a major depression. A variety of other drug challenges and treatments for his torticollis had no psychotomimetic effect. Blockade of 5-HT receptors may subserve methysergide-induced psychosis.

Adult↗

Sternomastoid tumor of infancy.

Sternomastoid tumor of infancy (SMTI) is the most common cause of neck mass in the perinatal period. We present seven children with this disorder, six studied prospectively. Ages at presentation ranged from 1 week to 4 weeks. Five had a history of birth trauma. Torticollis with facial asymmetry was seen in two. In six the diagnosis of SMTI was made clinically, and these patients were managed conservatively with massage and controlled stretching of the neck. Resolution of the neck mass, the torticollis, and the facial asymmetry occurred in all patients. Pathologic and radiographic findings are presented. We conclude that careful clinical assessment precludes the necessity of biopsy and emphasize the importance of conservative management of this transient problem.

Delivery, Obstetric↗

Surgery of involuntary movements, particularly stereotactic surgery: reminiscences.

WHEN WE STARTED using stereotactic surgery in 1953, the existing stereotactic instruments required general anesthesia for fixation of the head. We designed a stereotactic instrument with target screens that could be fixed to the patient's head under local anesthesia. The results of stereotactic surgery for spasmodic torticollis were inconsistent. The active muscles were identified by electromyography and blocked with 1% lidocaine, resulting in marked but temporary improvement. It was decided to use selective peripheral denervation in these cases with very satisfactory results, and it became the only procedure we used for the relief of spasmodic torticollis.

Dyskinesias↗

Atlantoaxial rotatory fixation: part 3-a prospective study of the clinical manifestation, diagnosis, management, and outcome of children with alantoaxial rotatory fixation.

OBJECTIVE: This is a prospective study of the clinical manifestations, diagnostic motion analysis, management, and outcome of children with atlantoaxial rotatory fixation (AARF). METHODS: Fifty children presenting with painful torticollis were subjected to the three-head positions diagnostic computed tomographic scanning protocol described in Part II of our AARF study. Twenty-nine children qualified as having AARF (8 Type I, 11 Type II, and 10 Type III), and six children were classified in the diagnostic gray zone (DGZ). The AARF patients were given either halter or calipers traction depending on the type and chronicity of pretreatment delay. Upon reduction, patients were immobilized with either a cervicothoracic brace or a halo. Recurrence of AARF on halo and patients whose deformity was not reducible were given posterior C1C2 fusion at the best achievable alignment. The difficulty and results of treatment were measured according to the following: duration of traction, number of reduction slippage, percent not reducible by traction, percent needing halo, percent needing fusion, total duration of treatment, total number of treatment procedures, and percent who lost normal C1C2 dynamics. Results were compared between groups stratified by AARF types, by chronicity of pretreatment delay (acute << 1 mo, subacute = 1-3 mo, chronic > or = 3 mo) and by the presence or absence of recurrence (recurrent AARF defined as having two or more slippages). DGZ patients were treated with only comfort measures for 2 weeks and then restudied. Only those children with persistent symptoms and DGZ or worse motion dynamics were given traction and bracing. RESULTS: Neither age nor etiology significantly influenced the severity of AARF. There was only a slight tendency for children younger than 5 years, and for trauma, to associate with severe C1C2 interlock. Delay of treatment up to 11 months did not result in improvement of the neck restriction or in abatement of pain. In fact, there are strong suggestions that prolonged delay could lead to worsening of the rotatory dynamics: Type I AARF are highly correlated with delays longer than 3 months and Type III with delays less than 1 month. Also, four patients who had serial motion studies during the delay period showed clear worsening in the pathological stickiness in C1C2 rotation. In addition, chronic rotatory deformity led to progressive occiput -C1 separation or laxity teleologically to compensate for a skewed visual axis. The mean occiput -C1 separation angle for chronic patients was 31.2 degrees versus 5 degrees for acute patients and less than 3 degrees for normal children. The difficulty and duration of treatment, the number of reslippage after reduction, the rate of irreducibility, the need for halo and fusion, and the percentile of patients ultimately loosing normal C1C2 rotation were significantly greater with Type I patients than Type III patients, with Type II patients being intermediate. Likewise, chronic patients of all AARF types were much worse in all parameters than acute patients; subacute patients were closer to chronic patients in complexity and outcome. Severity and chronicity exerted independent effects on outcome, and the worse identifiable subgroup were the chronic Type I patients versus the best subgroup of acute Type III patients.Thirteen patients developed recurrent AARF; they had much worse prognosis in all aspects measured than nonrecurrent patients. Recurrence was adversely influenced by both the severity (type) and chronicity of AARF. Half of the DGZ patients resolved with analgesics, but two of six remained symptomatic and in DGZ dynamics, and one deteriorated to Type III AARF. Two of those three patients responded easily to traction and bracing, and one was lost to follow-up. CONCLUSION: Children with painful torticollis should be subjected to the three-position computed tomographic diagnostic protocol, not only to secure the diagnosis of AARF but also to grade the severity of the condition by virtue of the dynamic motion curve. Closed reduction with traction should be instituted immediately to avoid the serious consequences of chronic AARF. Proper typing and reckoning of the pretreatment delay are requisites for selecting treatment modalities. Recurrent dislocation and incomplete reduction should be treated with posterior C1C2 fusion in the best achievable alignment. Open reduction and halo immobilization to avoid permanent fixation can be tried with select cases.

Adolescent↗

La maladie de Grisel: spontaneous atlantoaxial subluxation.

OBJECTIVE: "La maladie de Grisel" (Grisel's syndrome) is a spontaneously occurring atlantoaxial subluxation with torticollis. We present a case of atlantoaxial subluxation occurring in a 20-year period of pharyngoplasty surgery. The occurrence of a "spontaneous" atlantoaxial subluxation after oral cavity or pharynx operations is rare. Because some neck pain and stiffness are commonly seen after these kinds of operations, we would like to draw attention to this unusual complication. Symptoms associated with a torticollis after an operation in the oral cavity or pharynx requires additional investigation to exclude this rare complication. A review of the available literature concerning etiology and treatment of la maladie de Grisel is presented.

Atlanto-Axial Joint↗

Animal models of focal dystonia.

Animal models indicate that the abnormal movements of focal dystonia result from disordered sensorimotor integration. Sensorimotor integration involves a comparison of sensory information resulting from a movement with the sensory information expected from the movement. Unanticipated sensory signals identified by sensorimotor processing serve as signals to modify the ongoing movement or the planning for subsequent movements. Normally, this process is an effective mechanism to modify neural commands for ongoing movement or for movement planning. Animal models of the focal dystonias spasmodic torticollis, writer's cramp, and benign essential blepharospasm reveal different dysfunctions of sensorimotor integration through which dystonia can arise. Animal models of spasmodic torticollis demonstrate that modifications in a variety of regions are capable of creating abnormal head postures. These data indicate that disruption of neural signals in one structure may mutate the activity pattern of other elements of the neural circuits for movement. The animal model of writer's cramp demonstrates the importance of abnormal sensory processing in generating dystonic movements. Animal models of blepharospasm illustrate how disrupting motor adaptation can produce dystonia. Together, these models show mechanisms by which disruptions in sensorimotor integration can create dystonic movements.

Animals↗

Cervical dystonia pathophysiology and treatment options.

Dystonia is a syndrome of sustained involuntary muscle contractions, frequently causing twisting and repetitive movements or abnormal posturing. Cervical dystonia (CD) is a form of dystonia that involves neck muscles. However, CD is not the only cause of neck rotation. Torticollis may be caused by orthopaedic, musculofibrotic, infectious and other neurological conditions that affect the anatomy of the neck, and structural causes. It is estimated that there are between 60,000 and 90,000 patients with CD in the US. The majority of the patients present with a combination of neck rotation (rotatory torticollis or rotatocollis), flexion (anterocollis), extension (retrocollis), head tilt (laterocollis) or a lateral or sagittal shift. Neck posturing may be either tonic, clonic or tremulous, and may result in permanent and fixed contractures. Sensory tricks ('geste antagonistique') often temporarily ameliorate dystonic movements and postures. Commonly used sensory tricks by patients with CD include touching the chin, back of the head or top of the head. Patients with CD are classified according to aetiology into two groups: primary CD (idiopathic--may be genetic or sporadic) or secondary CD (symptomatic). Patients with primary CD have no evidence by history, physical examination or laboratory studies (except primary dystonia gene) of any secondary cause for the dystonic symptoms. CD is a part of either generalised or focal dystonic syndrome which may have a genetic basis, with an identifiable genetic association. Secondary or symptomatic CD may be caused by central or peripheral trauma, exposure to dopamine receptor antagonists (tardive), neurodegenerative disease, and other conditions associated with abnormal functioning of the basal ganglia. In the majority of patients with CD, the aetiology is not identifiable and the disorder is often classified as primary. Unless the aetiological investigation reveals a specific therapeutic intervention, therapy for CD is symptomatic. It includes supportive therapy and counselling, physical therapy, pharmacotherapy, chemodenervation [botulinum toxin (BTX), phenol, alcohol], and central and peripheral surgical therapy. The most widely used and accepted therapy for CD is local intramuscular injections of BTX-type A. Currently, both BTX type A and type B are commercially available, and type F has undergone testing. Pharmacotherapy, including anticholinergics, dopaminergic depleting and blocking agents, and other muscle relaxants can be used alone or in combination with other therapeutic interventions. Surgery is usually reserved for patients with CD in whom other forms of treatment have failed.

Botulinum Toxins↗

Pitfalls in the CT diagnosis of atlantoaxial rotary subluxation.

CT was used to examine six patients with clinically evident atlantoaxial rotary fixation, two patients with torticollis, and six normal subjects who had turned their heads to the side as far as voluntarily possible. The CT appearances of the atlantoaxial complex were identical in all three groups. To differentiate these groups, we propose a functional scan through C1-C2 in which patients are scanned initially as they present, with their heads fixed in lateral rotation. Subsequent scans are obtained with their heads turned to the maximum contralateral rotation. CT scans in patients with atlantoaxial rotary fixation demonstrate no motion at C1-C2 during this maneuver, while those in patients with transient torticollis show a reduction or reversal of the rotation of C1 on C2.

Adolescent↗

Subjective postural vertical in peripheral and central vestibular disorders.

The perception of subjective postural vertical was assessed in normals and patients with peripheral and central vestibular disorders and spasmodic torticollis. The subjects were seated in a motorized gimbal with the head and torso restrained and their eyes closed. The gimbal executed 7-10 cycles of tilt around the vertical at 1.5 degrees/s in either pitch or roll. Subjects indicated when they began to feel upright and again when they began to feel tilted by an analogous 3-position joystick. Normal subjects felt upright within a sector of 5-6 degrees around vertical in pitch and roll. Five patients with absent vestibular function, 25 torticollis patients and 3 patients with acute unilateral peripheral vestibular lesions showed a significant increase of the sector in pitch and roll, but only the latter had a mild directional bias. Two patients with long standing complete unilateral vestibular deficit and 8 patients with up or downbeat nystagmus in the vicinity of upright had abnormally large sectors within which they felt to be upright. The results suggest that vestibular function is important for the accurate perception of the postural vertical and that a directional asymmetry in vestibulo-ocular function or a head tilt does not necessarily correlate with a directional bias of subjective verticality.

Adult↗

A case of Sandifer's syndrome with hand tremor.

A 1.5-month-old boy with Sandifer's syndrome is described. After an uneventful delivery, he presented torticollis, seizure-like dystonic neck movements usually associated with feeding, episodic vomiting, inspiratory stridor and hand tremor in the first month of life. Barium esophagogram demonstrated gastroesophageal reflux, for which medical therapy was started. Children with torticollis and dystonic movements should be evaluated for Sandifer's syndrome. Early diagnosis and treatment of gastroesophageal reflux may prevent complications.

Fatal Outcome↗

[Post-traumatic unilateral atlanto-axial rotatory subluxation in an adult].

This retrospective single-patient case report deals with a rare form of spinal trauma, i.e. atlantoaxial rotatory subluxation. The authors present a review of the literature including a classification of rotatory atlantoaxial subluxation types proposed by Fielding, and describe their own experience with treatment of this condition. A case is reported of a 29-year-old woman with a history of head contusion in a car accident. Immediately after the trauma she had the following symptoms: torticollis and neck pain with decreased cervical motion. Atlantoaxial rotatory subluxation of the right C1-C2 articulation was diagnosed by plain radiographs and CT. The patient was treated surgically by an open reduction, unilateral screw fixation of the right CI-C2 articulation (according to Magerl) and posterior C1-C2 wiring with graft. The normal atlantoaxial relation was restored with disappearance of torticollis. At follow-up certain limitation of neck movements due to C1-C2 stabilization persisted. No complications were noted. The patient remains neurologically intact and has radiographic documentation of fusion.

Adult↗

[Features of the spontaneous unit activity in the human thalamic parafascicular (CM-Pf) complex and its modification in functional cerebral changes].

New data on neural organization of the human thalamic parafascicular (CM-Pf) complex were revealed with microelectrode technique during 11 stereotaxic operations in alert diskinetic patients suffering from the tonic forms of spasmodic torticollis. The data were obtained as follows: the functional heterogeneity in cellular organization of the human CM-Pf thalamic nuclei and the existence of three (A, B and C) different types of neurons in these thalamic nuclei: with the irregular discharges (A-type, 18%); with short (10-20 ms) bursts characterised by unstable rhythmic 2-5 Hz pattern and by the low threshold Ca2+ dependent K+ conductance (B-type, 77%); with long-lasting (0.1-2.0 s) bursts of high-frequency trains and constant interburst intervals (C-type, 5%). The functional cerebral changes after motor test performances were shown to be accompanied by appearance of transient modifications of the background unit activity pattern and by tendency towards an increase of neural activity local synchronisation with some stabilising of oscillatory rhythm of discharging B-type neurons. For the first time, a direct relationship between functional characteristics of the human thalamic CM-Pf units and the motor deviations was found in spasmodic torticollis patients.

Humans↗

[Idiopathic intervertebral disc calcification in children: the role of diagnostic imaging. A case report].

The idiopathic calcification of the intervertebral disc in childhood is a rare syndrome with unknown aetiology. This pathology is more frequent in males, with predominant localization to cervical spine. The natural evolution of the syndrome is the progressive and spontaneous resorption of the calcific deposit, with symptom regression. We report a case of an acute and worsening torticollis in a 10-year-old child, with reference to a recent minor cervical distortion, resistant to analgesic treatment. X-ray evaluation, executed after a week from the appearance of torticollis, showed an oval calcification in the nucleus pulposus of the C6-C7 intervertebral disc. The CT and especially the MRI concurred to recognize a disc hernia and an adjacent osteo-ligamentous pathologic participation. In particular, MRI showed the adjacent vertebral spongy bone edema and the active enthesiopathy of the posterior longitudinal ligament.

Calcinosis↗

Frontal plagiocephaly: synostotic, compensational, or deformational.

Plagiocephaly is a term commonly used to describe congenital forehead asymmetry. Sixty patients with frontal plagiocephaly were evaluated retrospectively and separated into three types: synostotic (N = 24), compensational (N = 3), and deformational (N = 33). Categorization of frontal plagiocephaly as synostotic or deformational was reliably made by physical examination, focusing on the supraorbital rims, nasal root, ears, and malar eminences. Other anatomic parameters useful in the differential diagnosis included chin point, palpebral fissures, and facial height. This study documented that birth histories were similar for synostotic and deformational frontal plagiocephalic infants. However, other deformational anomalies were more common in deformational frontal plagiocephalic infants, whereas malformations had an equal incidence in deformational and synostotic frontal plagiocephalic infants. Torticollis was an associated finding in 64 percent of infants with deformational frontal plagiocephaly; almost all were ipsilateral. In contrast, head tilt, usually to the contralateral side, was noted in 14 percent of patients with synostotic frontal plagiocephaly. Female preponderance was noted in both synostotic (79 percent) and deformational (76 percent) frontal plagiocephaly. Left-sided involvement was seen in 73 percent of patients with deformational frontal plagiocephaly and in 46 percent of patients with synostotic frontal plagiocephaly. Premature pelvic descent, in the left occipital anterior position, may account for the high incidence of left-sided deformational plagiocephaly and ipsilateral torticollis.

Abnormalities, Multiple↗

Cervical dystonia following exposure to high-G forces.

Injuries to the cervical region have been associated with high-G loads sustained during air combat maneuvering (ACM) in high performance fighter aircraft. The spectrum of injuries ranges from mild neck pain to musculoskeletal strain, injury to the nerve roots or spinal cord, and fracture of the cervical spine. A 36-year-old fighter pilot with 2,800 h in tactical jet aircraft developed progressive cervical dystonia (spasmodic torticollis), following an ACM flight. The patient was successfully treated with local intramuscular injections of botulinum toxin into the affected cervical muscles, resulting in total relief of his spasmodic torticollis. The aeromedical considerations of this rare complication of exposure to G forces in high performance aircraft are discussed.

Adult↗