Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “TORTICOLLIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,585 records · Page 88Linked to original sources
PubMed1991

The coexistence of tics and dystonia.

We studied nine patients with motor and phonic tics and other features of Tourette's syndrome, who developed persistent dystonia in addition to their tics. All, except one, were males (mean age, 35.8 years; range, 8 to 59 years), and had onset of tics prior to age 18 years (mean age, 9 years; range, 1.5 to 17 years). None of the patients were treated with neuroleptic drugs prior to the onset of dystonia. Torticollis and blepharospasm were the most common forms of dystonia. Seven patients had a history of tics in first degree relatives. While these patients were seen in a specialized movement disorder clinic and may, therefore, represent a population with atypical and more severe symptoms, the high prevalence rate of dystonia (5.0% of all patients with Tourette's syndrome seen in the clinic) suggests that some patients with tics may have an increased risk for dystonia.

Adolescent↗
PubMed1997

Familial essential tremor in 4 kindreds. Prospects for genetic mapping.

OBJECTIVES: To describe 4 large families with essential tremor (ET) to draw attention to the marked clinical heterogeneity of ET. To use computer simulation analysis to provide information about the power of the family material for future linkage studies. SUBJECTS: We examined a total of 251 members from 4 kindreds with ET. The mean (+/-SD) age at onset of ET varied among the 4 kindreds between 19.0 +/- 11.4 years and 45.6 +/- 7.4 years. Three of the kindreds had a total of 41 members with the combination of ET and dystonia, typically manifested as torticollis or dystonic writers' cramp. In 1 of the kindreds, ET seemed to be associated with malignant hyperthermia. One kindred represented "pure" ET without any associated disorders. METHODS: In addition to detailed clinical assessments, we conducted computer simulations on the families' pedigrees using a model that presumed an autosomal dominant inheritance pattern with high penetrance. RESULTS: Although there was evidence of clinical heterogeneity between the families, the duration of symptoms directly correlated with the severity of disease. The computer simulations indicated that 3 of the 4 pedigrees had enough power to generate a significant linkage result in a total genome search with highly polymorphic markers. CONCLUSIONS: This study confirms the frequent coexistence of ET and dystonia in individual families. Computer simulations can be used to determine the power of the family to detect a linked marker. Identification of the defective gene(s) will enable a better understanding and classification of these common movement disorders.

Aged↗
PubMed2000

Resistance to botulinum toxin injections for spasmodic dysphonia.

A known complication of botulinum toxin injections in the treatment of dystonia has been the occasional development of resistance. This has been seen primarily with patients who receive injections for torticollis. We report on 2 patients who, after several years of receiving injections for spasmodic dysphonia, developed clinical resistance by failing to have expected voice improvement after receiving laryngeal reinjection. One of the 2 patients demonstrated antibodies to botulinum toxin by mouse neutralization bioassay. The second patient had negative bioassay results but had no clinical response to the test toxin injection of facial muscles. These cases demonstrate that, although uncommon, resistance to botulinum toxin injections can occur in the treatment of spasmodic dysphonia. We offer suggestions to limit this complication.

Animals↗
PubMed1975

Localized cervical lymphadenopathy induced by diphenylhydantoin sodium.

Diphenylhydantoin sodium is a standard drug in the treatment of convulsive disorders. Numerous untoward reactions have been reported. Lymphadenopathy related to drug-induced hypersensitivity has occurred. A yound woman undergoing treatment for seizures developed a large, tender, localized neck mass, associated with trismus, spasmotic torticollis, fever, eosinophilia, and skin rash. She was thought to be suffering from a deep cervical fascial space abscess. Symptoms subsided rapidly after elimination of anticonvulsant medication.

Adult↗
PubMed1991

Focal myositis. A new cause for the pediatric neck mass.

Focal myositis is an inflammatory pseudotumor of skeletal muscle that may involve the head and neck. It can closely mimic either a neoplastic or infectious process. We present the case of a 7-year-old boy with a 2-week history of a painful, unilateral neck swelling, fever, and torticollis. He failed to respond to antibiotic therapy and required an open neck exploration. An incisional biopsy of the indurated, inflammatory tissue adherent to his sternocleidomastoid muscle showed focal myositis. Focal myositis is an unusual, but important possibility in the differential diagnosis of any neck mass and especially one in a child. Although its cause is unknown, it is a self-limited disease and neither excisional biopsy nor radical resection is justified.

Abscess↗
PubMed1997

Fibromatosis colli. The utility of fine-needle aspiration in diagnosis.

BACKGROUND: Fibromatosis colli (FC), also known as sternocleidomastoid tumor of infancy, is a benign spindle cell lesion of the sternocleidomastoid muscle. It usually is seen in the first few weeks of life and is the most common cause of a neck mass in the perinatal period. Although FC may lead to congenital muscular torticollis requiring surgical intervention, if the diagnosis of FC is certain, the usual initial treatment option is conservative management. OBJECTIVE: To show the utility of fine-needle aspiration in the diagnosis of FC. PATIENTS: Five cases in which fine-needle aspiration was used in the evaluation of patients with FC were identified retrospectively by a search of the cytopathology files of the State University of New York Health Science Center at Syracuse and the Virginia Commonwealth University, Medical College of Virginia, Richmond. RESULTS: Fine-needle aspiration yielded an initial diagnosis of FC in 4 of the 5 cases. Smears made from the aspirated material were of low cellularity, but showed a characteristic population of spindle-cell fibroblasts. In addition to these fibroblasts, a variable amount of degenerating skeletal muscle was present in the background. CONCLUSION: With the collaborative efforts of otolaryngologists and pathologists, fine-needle aspiration can be used to confirm a clinical diagnosis of FC while avoiding the expense and risk of open biopsy.

Adult↗
PubMed1998

Fibromatosis colli of infancy: variability of sonographic appearance.

PURPOSE: We describe the variable sonographic appearances of fibromatosis colli, a disease that presents as a mass-like enlargement of the sternocleidomastoid muscle during the first 8 weeks of life. METHODS: Sonograms and records of 12 infants who presented with a sternocleidomastoid mass or torticollis before they were 12 weeks old were retrospectively reviewed for sonographic features (presence of a mass, diffuse muscle enlargement, and echogenicity), medical history, and follow-up data. RESULTS: Sonographically, 6 infants had only a mass in the sternocleidomastoid muscle, 2 had a mass with fusiform muscle enlargement, and 4 had only muscle enlargement. Five masses were hyperechoic, and 1 mass was of mixed echogenicity. The 2 masses associated with muscle enlargement were hypoechoic. Three cases of diffuse muscle enlargement were of mixed echogenicity, and 1 was hypoechoic. Unusual variations included (1) a mass split longitudinally into 2 components and (2) a diffusely enlarged muscle with a striated pattern of mixed echogenicity. Follow-up in 10 patients at 4 months and in 7 patients at 6 months showed clinical improvement. CONCLUSION: Fibromatosis colli usually appears sonographically as a hyperechoic mass or diffuse sternocleidomastoid enlargement of mixed echogenicity. Variations in its appearance should not prevent the correct diagnosis as long as the abnormality is intramuscular and adjacent soft tissues are normal.

Fibroma↗
PubMed1999

Syringomyelic dystonia and athetosis.

Two patients with movement disorders associated with syringomyelia are described, one of whom developed unusual torticollis, and the other had choreoathetoid-dystonic movements of the hand and arm. In each case, the movements resolved with decompression of the syrinx. The literature is reviewed and possible mechanisms explored.

Adult↗
PubMed1984

The fragile X syndrome II: preliminary data on growth and development in males.

Growth data--stature, body weight, occipito-frontal circumference (OFC), ear length and mean testicular volume (MTV)--in 61 males with the fragile X syndrome are presented. Small increases in the mean OFC and ear length and large increases in the MTV were found. The overgrowth of the head was evident in childhood. The characteristic facial appearance was deemed to be present in 60% of the subjects and was recognizable in childhood. Macro-orchidism (MTV of greater than or equal to 30 ml) was present in 80% of the adults but none of the children. Five subjects had a cleft palate, 11 serious eye disorders (3 with congenital nystagmus), and 4 had torticollis and/or kyphosis. Limited information on development suggested that mental retardation was present from early life and was not progressive. Although 3 subjects were autistic (2 with self abuse) most were pleasant, even tempered and cooperative men and boys.

Abnormalities, Multiple↗
PubMed1991

Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts.

We report on a patient with hip and elbow dislocations, joint hyperextensibility, peculiar facial appearance, torticollis, cryptorchidism, unilateral hexadactyly, and other minor anomalies. Cultured cells from this patient produce less type I procollagen and have a slower rate of processing of type I procollagen to collagen in the culture medium. We think that the pattern of clinical anomalies constitutes a previously unreported syndrome with type I procollagen defect as a manifestation of the syndrome.

Abnormalities, Multiple↗
PubMed2001

A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome.

Sex-linked male deafness and dystonia (Mohr-Tranebjaerg syndrome) arises from mutation of the deafness/dystonia peptide (DDP) gene. We describe a novel guanine deletion at nucleotide 108 of the DDP gene in a family with Mohr-Tranebjaerg syndrome, which terminates this 97-amino acid protein at codon 25. Unlike previously reported kindreds, carrier females in this family also manifest dystonias, including torticollis and writer's cramp. A family history of male deafness should alert clinicians to the possibility of DDP mutation in women with focal dystonias.

Adult↗
PubMed1987

Symptomatic atlantoaxial dislocation in Down's syndrome.

Four patients with Down's syndrome suffered compression of the spinal cord secondary to atlantoaxial dislocation. All four developed inability to walk and quadriparesis, with signs of cervical myelopathy. It is important to recognize this potentially fatal complication of the syndrome. Immediate immobilization of the neck, followed by cervical roentgenograms, should be done in any patient with Down's syndrome who presents with neck pain, torticollis, urinary incontinence, or loss of ambulation. Surgical repair with fusion of the first and second cervical vertebrae can be carried out later.

Adolescent↗
PubMed2007

Anatomic study of the synovial folds of the occipito-atlanto-axial joints.

This study was performed to observe and measure synovial folds of the occipito-atlanto-axial joints and to explore their clinical significance. Two hundred ninety eight occipito-atlanto-axial joints from 30 embalmed cadavers of children and 20 of adults were dissected to find the incidence, quantity, distribution, forms, dimension, and histology of synovial folds. Synovial folds were found in most joints in both groups except for the posterior median atlantoaxial joints. Most of synovial folds were crescent-shaped, distributed on the superior aspects of the anterior median atlantoaxial joints, or in the antero-lateral aspects of the atlantooccipital joints and the lateral atlantoaxial joints. Compared to the adult group, the child group had a higher incidence of synovial folds (72.5% joints). The adult incidence was found to be 58.5%. 54.3% of the synovial folds in child were medium size or large size, but only 30.1% of the synovial folds in adult were medium size and there were no large ones. Microscopically, there were three histologic types synovial folds in these cervical joints, and 78.9% of them belonged to adipose type or fibro-adipose type in child, but only 45.8% belonged to the two types in adult. Our data suggest that the larger synovial folds in children may predispose them to an increased rate of entrapment with resultant edema and subluxation of the associated joint complex. This may be the cause why some cervical spine diseases preferentially take place in children rather than in adult, such as benign paroxysmal torticollis'atlantoaxial rotatory deformity and Grisel's syndrome.

Adult↗
PubMed1988

Primary CNS lymphoma presenting as a choreic movement disorder followed by segmental dystonia.

Clinical presentation of primary CNS lymphoma with an extrapyramidal movement disorder has not been recorded. A 66-year-old woman presented with chorea involving her left arm and subsequently developed right-sided segmental dystonia with prominent hemifacial dystonic spasms, milder torticollis and dystonia of the right arm. Investigations revealed primary CNS lymphoma with extensive involvement of the right-sided basal ganglia as well as lesions confined to the head of the left caudate nucleus and the corpus callosum. Chorea of her left arm subsided with progressing disease while remission of right-sided segmental dystonia was observed following radiotherapy of the brain. This patient's findings and a review of the literature suggest a possible relation between cranio-cervical dystonia and pathology affecting the head of the caudate nucleus.

Aged↗
PubMed1989

Treatment of movement disorders with trihexyphenidyl.

The clinical efficacy of the trihexyphenidyl was investigated in 100 patients with movement disorders. The study group consisted of 54 women and 46 men. Their ages ranged from 18 to 70 years, and their duration of illness varied from a few months to 36 years. Each patient had a videotape of the movements and a neurological examination, before administration of the drug, at the time of maximum or effective dosage, and one week after withdrawal from trihexyphenidyl. The drug was administered at an initial total daily dose of 2 mg and gradually increased to a total daily dose of 60 mg over a period of 4-6 weeks. Improvements were rated both clinically and from the videotapes. Three groups of movement disorders demonstrated a significant response to trihexyphenidyl: (1) dystonia 37%; tonic torticollis demonstrated a significantly better response than the clonic variant (80% vs. 22%). (2) rhythmic-oscillatory movements of brainstem-cerebellar origin (palatal myoclonus, pendular nystagmus, facial myokymia) 90%; (3) cerebellar tremor 75%. Among 32 responders, 17 (56%) continued taking trihexyphenidyl beyond 24 months. Side effects consisted of dryness of the mouth, jitteriness, stomatitis, blurred vision, and forgetfulness.

Adolescent↗
PubMed1990

Trunk and head tremor as isolated manifestations of dystonia.

Five patients presenting with isolated tremors of the trunk or neck are described. Their clinical features were similar to seven other patients who presented with head tremor, or arm and head tremor, but then eventually developed obvious torticollis, sometimes with arm dystonia. We conclude that isolated tremor of the trunk or head, especially of slow frequency (2-5 Hz), and in the case of the head in a "no-no" direction, may be the initial manifestation of focal dystonia.

Adult↗
PubMed1994

Effectiveness of botulinum toxin type A against painful limb myoclonus of spinal cord origin.

Botulinum toxin is now an established treatment for blepharospasm, hemifacial spasm, spasmodic torticollis, and spastic dysphonia. We report the effectiveness of botulinum toxin against painful limb myoclonus of spinal cord origin. The patient, a 16-year-old girl with a pulmonary vascular anomaly, Scimitar syndrome, suffered from an acute spinal cord infarct at age 11. She was left with paralysis of the right leg and bladder dysfunction. Four years after the original insult, she developed "painful cramping" and involuntary movements of the left thigh, which were unresponsive to a wide range of therapeutic trials. The movements were continuous, rhythmic, and confined to the left quadriceps muscles. Electromyographic examination revealed continuous myoclonic discharges. Treatment with botulinum toxin in the left quadriceps muscles resulted in complete cessation of pain and marked reduction in amplitude of the movements, both clinically and electromyographically. This observation indicates the efficacy of botulinum toxin in the treatment of painful spinal myoclonus.

Adolescent↗
PubMed1994

Movement disorders following lesions of the thalamus or subthalamic region.

Reports of 62 cases with a movement disorder associated with a focal lesion in the thalamus and/or subthalamic region were analyzed. Thirty-three cases had a lesion confined to the thalamus. Sixteen cases had a thalamic lesion extending into the subthalamic region and/or midbrain. Thirteen cases had a lesion in the subthalamic region or a subthalamic lesion extending into the midbrain. Nineteen cases with dystonia, 18 with asterixis, 17 with ballism-chorea, three with paroxysmal dystonia, and five with clonic or myorhythmic movements have been described. No case with isolated tremor has been described. In 53 cases with unilateral thalamic or subthalamic lesions, all but one with bilateral blepharospasm (associated with right posterior thalamic, pontomesencephalic, and bilateral cerebellar lesions) had dyskinesias in the limbs contralateral to the lesion. The other nine cases had bilateral paramedian thalamic lesions; seven developed bilateral dyskinesias, and the remaining two had unilateral dyskinesias. Regarding the 19 patients with dystonia, the two with bilateral blepharospasm had thalamic and upper brainstem lesions, and one with hemidystonia and torticollis had a subthalamic lesion. The other 16 patients all had a unilateral thalamic lesion with contralateral dystonia (10 hemidystonia, five focal dystonia affecting a hand and/or and one segmental dystonia involving face, arm, and hand). The exact location of the thalamic lesion was mentioned in 10 cases; the posterior or posterolateral thalamus was involved in six and the paramedian thalamus in four. These areas are more posterior or medial to the ventrolateral and ventroanterior thalamic nuclei, which receive pallido-thalamic and nigro-thalamic afferents. Two cases developed dystonia immediately after thalamotomy, and one case developed it 4 days after head trauma. The others initially had a hemiplegia and developed dystonia 1-9 months after the acute insult. Fifteen of the 17 patients with chorea had a unilateral lesion in the subthalamic nucleus or subthalamic region (eight due to infarcts, one to hemorrhage, five to mass lesions, and one to multiple sclerosis). All had contralateral hemichorea or hemiballism. One other case had bilateral chorea of the hands and tongue due to paramedian thalamic infarction. Another case with generalized chorea and thalamic atrophy was complicated by stereotaxic surgery. Thirteen of the 18 cases with asterixis had lesions confined to the thalamus. Eight were associated with thalamotomy, and five others had a stroke (four infarction and one hemorrhage) affecting the contralateral thalamus.(ABSTRACT TRUNCATED AT 400 WORDS)

Dominance, Cerebral↗