Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a newly identified syndrome in which nasal retinal fibres fail to decussate due to the inborn absence of an optic chiasm. Visual evoked potential (VEP) assessment and neuro-opththalmic evaluation in two unrelated, non-albino children revealed the unusual visual pathway anomaly in the form of misrouted retinal-fugal projections. Monocular VEP responses across the occiput, regardless of stimulus mode (full- or partial-field pattern onset, pattern reversal, luminance flash or high temporal frequency luminance flicker) showed unequivocal evidence of pathological VEP ipsilateral asymmetry. Marked attenuation of primary visual evoked responses from the occiput contralateral to the eye of stimulation, indicative of aberrant contralateral retinal-fugal projections, was confirmed by MRI which depicted the remarkable achiasmatic condition. MRIs and neurological evaluation also confirmed the absence of accompanying congenital or acquired brain malformations or anomalies. Ophthalmic evaluation revealed that both achiasmatic children had reduced distance acuity for age, alternating esotropia, torticollis, head tremor and ocular motor instability; visual fields were normal. Eye movements were also monitored and indicated congenital nystagmus waveforms in the horizontal plane; see-saw nystagmus was observed in the the horizontal plane; see-saw nystagmus was observed in the vertical and torsional planes. The age range of the two children during evaluation and follow-up, over a 6-year period, was about 4-15 years. Comparisons of VEP responses from age-matched normal, albino and idiopathic congenital nystagmus controls, recorded under the same VEP test conditions, were also performed. In contrast to the achiasmatic ipsilateral inter-ocular asymmetry, the albinos showed the expected monocular VEP topography pattern of contralateral asymmetry. Also as expected, VEP profiles from the normal controls and those with congenital nystagmus, evinced no aberrant asymmetry patterns. In general, the results indicate that the VEP misrouting protocol is indispensable for the non-invasive electrophysiological detection and differential diagnosis of optic pathway mutations and may well identify individuals with purported idiopathic congenital nystagmus or albinism that are, in fact, achiasmatic.
 ...
PMID:Non-decussating retinal-fugal fibre syndrome. An inborn achiasmatic malformation associated with visuotopic misrouting, visual evoked potential ipsilateral asymmetry and nystagmus. 749 80

Twenty index patients with hereditary essential tremor and their kindreds were studied to define the phenotype of this condition. Ninety-three first degree and 38 more distant relatives were examined; 53 definite and 18 possible secondary cases were identified. The age of tremor onset was bimodally distributed with a median at approximately 15 years. Segregation analysis indicated autosomal dominant inheritance and penetrance was virtually complete by the age of 65 years. There were no examples of the disease skipping a generation. Men and women were affected in equal proportions. About 50% of cases were alcohol responsive. In the majority of families alcohol responsiveness was either consistently present or did not occur, but in 20% of kindreds definite heterogeneity of responsiveness was encountered within each family. The typical phenotype was a mild symmetrical postural tremor of the upper limbs. Tremor of the legs, head, facial muscles, voice, jaw and tongue occurred but never in isolation and rest, task specific (e.g. primary writing tremor) and primary orthostatic tremors were not found. Head tremor was invariably mild and 75% was of a 'no-no' type. Dystonia (e.g. torticollis and writer's cramp) were not encountered, a finding which strongly suggests that many previous studies of 'essential tremor' were contaminated by cases of idiopathic or hereditary torsion dystonia. No association with Parkinson's disease was found but classical migraine occurred in approximately 26% of cases and co-segregated with tremor. The severity of arm tremor (assessed using a clinical rating scale and by scoring tremor in Archimedes spirals) and disability increased with advancing age and increasing tremor duration, but there was no correlation between age at tremor onset and either tremor severity or disability. Men and women were affected with equal severity. The sex of the affected parent had no influence on the severity of tremor or the degree of disability experienced by an affected child. Disability commenced in the second decade and progressively increased. All the index patients and 59% of the definite secondary cases had tremor induced disabilities. Eighty-five percent of index patients and 38% of secondary cases also reported some degree of social handicap. Twenty-five percent of index patients and 12% of secondary cases had been compelled to change jobs or retire. Biological fitness was normal.
 ...
PMID:A study of hereditary essential tremor. 792 67

Local injections of botulinum toxin is a well-accepted treatment for focal dystonias, hemifacial spasms and strabismus. Its use by skilled neurologists has been reported to be safe and effective. We report our experience with botulinum toxin injections in 108 patients with various central nervous system disorders. Botox was effective in upper face dystonia (86% improvement), spastic dysphonia (92% improvement), platysma muscle spasms and spasmodic torticollis (range of movement 61%, pain and tension 90%). It was also very effective in a few patients with apraxia of eyelid opening, parkinsonian jaw tremor, teeth clenching, palatal myoclonus and adductor leg spasticity. No serious side effects were recorded. Botulinum toxin is a useful symptomatic treatment for many neurological disorders, and one of the leading mode of treatments in the new subspecialty in neurology called "Interventional neurology."
 ...
PMID:Interventional neurology: botulinum toxin as a potent symptomatic treatment in neurology. 798 70

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)
 ...
PMID:Movement disorders following lesions of the thalamus or subthalamic region. 799 Aug 45

Two children with congenital stationary night blindness were originally diagnosed as having spasmus nutans. Both children had the typical features of spasmus nutans including asymmetric nystagmus, head shaking, and torticollis. The diagnosis of congenital stationary night blindness was established only after each child underwent electroretinography. The nystagmus associated with retinal disease can mimic many of the features of spasmus nutans. Children suspected of having spasmus nutans should undergo complete ophthalmologic examination and electroretinography if they are myopic.
 ...
PMID:Retinal disease masquerading as spasmus nutans. 835 Oct 22

Thirty-two patients with spasmodic torticollis were assessed quantitatively for posture deformity, tremor and range of neck movement, and qualitatively for pain and global subjective disability. All patients were then treated with intramuscular botulinum toxin injections into appropriate neck muscles. Fifty-three treatments were administered using dosages of toxin in the range of 50-100 U per muscle. The maximum dose administered at a single sitting was 280 U. The progress of the patients was assessed during an 18-month period. Seventy-five percent of patients showed documented improvement in both subjective and objective parameters and were considered treatment successes. Pain improved in 65%, posture in 65%, tremor in 50% and range in 46%. The side effects that occurred were transient and included fatigue, dysphagia, neck weakness, hoarseness and local pain. This study demonstrates that treatment with botulinum toxin is of significant benefit for the majority of patients with spasmodic torticollis.
 ...
PMID:Effectiveness of botulinum toxin in the treatment of spasmodic torticollis. 846 37

Fifty-five patients were treated with botulin injections into the muscles showing dystonia, contracture or tremor. Twenty two of them had torticollis, 21 had blepharospasm, 10 had hemifacial spasm, and 2 had tremor. In all, 112 injections were done with good result in 64%, slight effect in 27% and without effect in 9% of the cases. Similar results have been reported from other centers in the world. Adverse effects were not significant and disappeared after several days or weeks. They included ptosis, speech and deglutition disturbances, general weakness and neurotic reactions. These adverse effects developed in 12 cases. In cases of tremor the dose as well as the technique of injections must be individualized. The method is an important therapeutic advance and can be applied in outpatient clinics.
 ...
PMID:[Own experience with botulinum treatment of dystonia]. 854 26

A literature survey was done to outline the natural history of cervical dystonia (spasmodic torticollis). The disorder starts between 25 and 60 years with head deviation or neck pain. Sometimes, there are personal or familial extrapyramidal antecedents (tremor, dystonia). The role of a preceding neck or head trauma is unsettled. Often, there is a delay in diagnosis of more than one year. The majority of patients show steady progression of their focal dystonia and reach maximal disability after five years; neck pain occurring in 70-80% contributes significantly to disability. In a third of the cases, there is a progression to segmental dystonia. In about 20% of the patients a spontaneous, sustained or unsustained remission of the torticollis can be observed; this occurs particularly in cases with earlier age of onset. Cervical dystonia has important psychosocial consequences: many patients have to withdraw from their job or from social activities.
 ...
PMID:Cervical dystonia (spasmodic torticollis). Some aspects of the natural history. 855 94

Three siblings of a consanguineous parents with involuntary movements are reported. The mother had only a very slight neck tremor, without any other neurological abnormality, and the father had died. The 38-year-old son (Case 1) complained of involuntary movements at the age of 6. His involuntary movements were observed in the tongue, perioral region and upper and lower extremities: jerky movements with dystonic features. The 46-year-old elder brother (Case 2) experienced involuntary movements at the age of 18. Involuntary movements were observed in the upper extremities; he also had torticollis and tremulous movements in the neck, and jerky movements in the perioral region. They showed gait disturbance and dysarthria. The 35-year-old sister (Case 3) also experienced involuntary movements. When she was writing, her involuntary movements were obvious: dystonia and myoclonic jerks. Tremor in the neck was also seen. Their intelligence was below average. We concluded that this family had hereditary torsion dystonia, with myoclonus, and low intelligence. This condition may be associated with an autosomal recessive gene.
 ...
PMID:Hereditary non-progressive torsion dystonia with intellectual disturbance. 858 May 54

Different forms of symptomatic dystonia have been reported in patients with multiple sclerosis, but the appearance of spasmodic torticollis is extremely rare. We present the case of a 24-year-old man with postural and intentional left hand tremor and leftward spasmodic torticollis. The duration of the disease is 6 years, without remissions. The cerebrospinal fluid examination revealed oligoclonal (two bands) hypergammaglobulinemia. Auditory and visual evoked potentials showed altered sensory afferentation. On magnetic resonance imaging brain scan, multiple T2 high signal lesions involving the white matter of both cerebral hemispheres, mainly the periventricular regions, were found. There were also multiple lesions in the brain stem and some in the cerebellar hemispheres. Thus the diagnosis of multiple sclerosis could be considered as definite. In conclusion, extremely rarely, multiple sclerosis may appear with progressive spasmodic torticollis and rubral tremor.
 ...
PMID:Spasmodic torticollis and tremor due to multiple sclerosis: a case report. 883 92


<< Previous 1 2 3 4 5 6 7 Next >>