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

The clinical features of 12 patients with spasmodic dysphonia are described. In 11 patients, the voice was strained, harsh, tight, and tremulous, and was low in volume and pitch. Speech, which was sometimes barely intelligible, was interrupted by irregular stoppages and catches of the voice; it required considerable effort, and was accompanied by facial grimacing. The dysphonia was part of a more widespread neurological disorder (idiopathic torsion dystonia) in one case, while it coexisted with blepharospasm in another, and with postural tremor in two. There was a buccolingual hyskinesia in another of these 11 patients, but this may have been related to her previous drug regime. In the twelfth patient, who had a familial tremor, the voice was characterised by marked breathiness, with intermittent aphonia. The disorder is probably due to a focal dystonia of the laryngeal musculature, and this would be consistent with the type of neurological disorders that were associated with it in our cases. Symptomatic benefit follows the therapeutic division of one of the recurrent laryngeal nerves, in selected cases.
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PMID:Clinical aspects of spasmodic dysphonia. 65 Feb 44

A young child with Hallervorden-Spatz syndrome is presented. She was well until 8 years of age when she lost interest in activities and her school performance declined. At age 11 years, she began having episodes of blepharospasm, accompanied by bilateral ptosis and occasional episodes of oculogyric crisis. By age 12 years, her motor coordination had declined and she began to exhibit evidence of dementia, dystonia, dysarthria, and tremor. Motor incoordination, dystonia, and tremor progressed until the patient was wheel-chair-bound. Multiple tests were performed, including metabolic studies, magnetic resonance imaging, bone marrow biopsy, and electron microscopy of the buffy coat. Both bone marrow and buffy coat revealed inclusions in the cytosomes which were granular and osmiophilic. To our knowledge, this is the third case report of inclusion bodies found in patients with manifestations of Hallervorden-Spatz syndrome. These findings suggest that obtaining a buffy coat and bone marrow biopsy may aid in the diagnosis of Hallervorden-Spatz syndrome and ultimately provide information regarding etiology.
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PMID:Osmiophilic deposits in cytosomes in Hallervorden-Spatz syndrome. 170 Jul 20

The results obtained in a retrospective study on clinical and pharmacological aspects of 41 patients suffering craniocervical dystonia (24 with blepharospasm, 17 with torticollis) and 11 with spasm are here presented. Mean age of symptoms onset was 57.4, 43.8 and 55.8 years old respectively; this variable was comparatively higher in females than in males with torticollis. The prevalence of blepharospasm and hemifacial spasm was higher in females. A 38.7% of patients suffering blepharospasm also presented oromandibular dystonia (Meige's syndrome). Other abnormal movements less frequently associated were cephalic tremor, postural hand tremor and larynx dystonia. In three cases with blepharospasm there was family history of Parkinson's disease and in two cases with torticollis there was family history of essential tremor. The mean age of onset was lower in patients with clonic torticollis and the evolution time of symptoms was longer than in those who presented the tonic type. Clonic torticollis were less frequently associated to pain. Trihexyphenidyl (anticholinergic) was the most efficient drug in craniocervical dystonia, and clonazepam in facial hemispasm. In general, as earliest the age of onset was, as better the therapeutical response was.
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PMID:[Craniocervical dystonia and facial hemispasm: clinical and pharmacological characteristics of 52 patients]. 176 88

The clinical phenotype of X-linked recessive torsion dystonia was documented in 42 affected individuals from 21 families. In 7 families, there were 9 sibships (core families) with 2 or more affected individuals available for evaluation. The ages of the patients ranged from 29 to 79 years with a mean of 46.2 +/- 10.1 years; the mean age of onset of dystonia was 35.0 +/- 8.0 years with a range of 12 to 48 years; and the mean duration of illness was 11.1 +/- 7.9 years. First manifestations were noted in the lower extremities in 36%, the axial musculature in 29%, the upper extremities in 23%, and in the head in 12% of the cases. The majority of patients displayed gait abnormalities (90%), leg dystonia (79%), oromandibular dystonia (64%), neck dystonia (57%), blepharospasm (57%), and truncal dystonia (52%). The disease generalized in 90% of the cases within 1 to 11 years of onset (median duration, 5 years). Overall, the condition was disabling, but the Fahn-Marsden disability score did not correlate with age of onset, duration of illness, site of onset, rate of generalization, or presence of parkinsonism. Thirty-six percent of the cases displayed at least 1 of the following "parkinsonian symptoms": bradykinesia, tremor, rigidity, loss of postural reflexes and a shuffling gait. Parkinsonism was diagnosed as definite in 14%, probable in 2%, and possible in 19% of the cases. Given this high association of dystonia and parkinsonism, we propose to call the disorder X-linked dystonia-parkinsonism syndrome (XDP).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:The phenotype of the X-linked dystonia-parkinsonism syndrome. An assessment of 42 cases in the Philippines. 203 Jun 41

We studied 300 patients, 61% women, with mean age 49.7 years and mean duration of dystonia 7.8 years, to determine the demographic and clinical characteristics of cervical dystonia (CD) and its relationships to other movement disorders. Torticollis was present in 82%, laterocollis in 42%, retrocollis in 29%, and anterocollis in 25%; however, the majority (66%) had a combination of these abnormal postures. Scoliosis was present in 39%, local pain reported by 68%, and 32% had evidence of secondary cervical radiculopathy. In addition to CD, 16% of patients had oral dystonia, 12% mandibular dystonia, 10% hand/arm dystonia, and 10% had blepharospasm. Tremor was noted in 71% of patients; head-neck tremor was present in 60%, and tremor in other body regions was present in 32%. A family history of a movement disorder was present in 44% of the CD patients. Tardive dystonia was the cause in 6%; 11% had posttraumatic dystonia. Anticholinergic drugs provided moderate improvement in 33% of patients, but local intramuscular botulinum toxin injections relieved CD, local pain, or both in over 90% of all treated patients.
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PMID:Cervical dystonia: clinical findings and associated movement disorders. 206 38

Meige's syndrome is a form of cranial dystonia characterized by the presence of bilateral dystonic spasms of the facial muscles and frequently of other cranial muscles as well. Its most common and disabling manifestation is blepharospasm which can render the patient functionally blind. Several types of orbicularis oculi spasms occur in Meige's syndrome: brief clonic spasms, prolonged dystonic spasms, constant tonic contraction, and "apraxia" of lid opening. In the completed form of the syndrome, blepharospasm is typically associated with lower facial or oromandibular dystonia. Spasms of the neck and limb muscles, generally mild, and action tremor not uncommonly accompany the cranial dystonia. In most patients the cause of the spasms is unknown. This so-called idiopathic or primary form of Meige's syndrome is considered an adult form of adult onset dystonia. Secondary Meige's syndrome can be encountered in the context of several neurodegenerative disorders, chronic administration of neuroleptics, levodopa, or other drugs, and in patients with focal brain lesions. These secondary cases of Meige's syndrome suggest that a dysfunction of the basal ganglia or of the mesencephalic/diencephalic region plays an important role in the pathophysiology of this dystonic syndrome. Recent neurophysiologic studies and postmortem findings in some patients also support the notion that disease of the brain stem contributes to the pathophysiology of orofacial dystonia.
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PMID:Blepharospasm-oromandibular dystonia syndrome (Meige's syndrome): clinical aspects. 327 55

We studied a 68-year-old man who died after 13 years of progressive dementia, rigidity, bradykinesia, mild tremor, stooped posture, slow and shuffling gait, dystonia, blepharospasm, apraxia of eyelid opening, anarthria, aphonia, and incontinence. At autopsy, he had generalized brain atrophy with large deposits of iron pigment in the globus pallidus, caudate, and substantia nigra. Axonal spheroids were found in the globus pallidus, substantia nigra, medulla, and spinal cord. The neurochemical analysis of the brain revealed marked loss of dopamine in the nigral-striatal areas, with relative preservation of dopamine in the limbic areas. This is the oldest case of familial Hallervorden-Spatz disease reported and the first with neurochemical analysis of the brain.
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PMID:Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism. 396 11

We evaluated prospectively 100 patients, the largest reported series, with blepharospasm and orofacial-cervical dystonia, or Meige syndrome. The mean age at onset was 51.7 years, and 81% presented between the ages of 40 and 70. Women outnumbered men three to two. Blepharospasm was the initial symptom in 58 patients, but only 23 had involuntary movements localized to the orbicularis oculi. Sixty-one patients had the complete syndrome, blepharospasm and oromandibular dystonia, and 60 had neck or generalized dystonia in addition to the orofacial movements. Twenty-one patients with spasmodic dysphonia were included; in 12 of these patients, spasmodic dysphonia was part of the complete (Meige) syndrome, and 16 of these patients had neck or generalized dystonia or essential tremor. An organic cause of Meige syndrome is supported by a high correlation with essential tremor and other movement disorders and by positive family history in some patients. Response to medication was inconsistent, but 69% of patient trials resulted in some improvement; in 22% the benefit was marked and persistent. Tetrabenazine, lithium, and trihexyphenidyl were most useful for the treatment of oromandibular dystonia, and clonazepam was useful in some patients with blepharospasm.
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PMID:Blepharospasm and orofacial-cervical dystonia: clinical and pharmacological findings in 100 patients. 683 74

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

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.
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PMID:[Own experience with botulinum treatment of dystonia]. 854 26


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