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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe the case of a male patient who developed electromyographically confirmed myokymia, dystonia and tremor and clinically confirmed focal dystonia and tremor, secondary to electrical injury. Dystonia is a rare complication of electrical injury. Myokymic discharges secondary to electrical injury are previously unreported. Dystonia and tremor EMG findings were present not only at the clinically affected muscles of the lower limb but also at the clinically unaffected upper limb muscles. This is the first case report to link myokymia as a secondary complication of an electrical injury.
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PMID:Focal dystonia, tremor and myokymic discharges secondary to electrical injury. 2157 57

Dystonia consists of involuntary repetitive twisting (torsion) or directional movements, sometimes leading to sustained postures. The movements are stereotyped and characterized by co-contraction of agonist and antagonist muscles. There is a broad clinical spectrum of dystonia which derives in part from the differential distribution of involvement. Dystonia may be localized, affecting a single body region, or generalized, affecting multiple extremities along with the trunk. Intermediate dystonic involvement can be described as segmental, designating two affected contiguous body regions, or multifocal, designating two or more noncontiguous affected body regions. Hemidystonia refers to dystonia affecting only one side of the body. Dystonia can also be categorized by age of onset and etiology. Early onset dystonia, occurring in childhood or adolescence (in some studies younger than 26 years old), is associated with more progressive disease [Greene et al. (1995). Mov. Disord. 10, 143]. In this age group, dystonia usually first appears in a limb and then spreads to involve other limbs and axial muscles; some early-onset patients may have involvement of laryngeal and other cranial muscles. Adult or late-onset dystonia typically begins in the neck, arm, or cranial muscles. Compared to early-onset dystonia, the area of involvement is more likely to remain focal or segmental. Dystonia can be considered either primary or nonprimary. Primary torsion dystonia (PTD), historically called dystonia musculorum deformans and Oppenheim's dystonia, describes dystonia in isolation, excepting tremor, without brain degeneration and without an identified acquired cause. Nonprimary or secondary dystonia encompasses a heterogeneous group of syndromes and etiologies including inherited (with or without brain degeneration), acquired, and complex neurological disorders. Monogenic forms of dystonia are labeled DYT and enumerated in the order in which they were discovered. The current 20 DYT loci comprise a heterogeneous group of disorders. (Table I) They can be divided into PTDs, dystonia-plus syndromes without brain degeneration, dystonia-parkinsonism with brain degeneration (i.e. DYT3), and paroxysmal dyskinesias. There are many neurodegenerative genetic disorders that share dystonia as a common feature of disease (Table II). This chapter will review the genetics of PTD, dystonia-plus syndromes without brain degeneration, and X-linked dystonia-parkinsonism. Other genetic dystonia-parkinsonism syndromes and the paroxysmal dyskinesias will not be discussed.
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PMID:Genetics and pharmacological treatment of dystonia. 2190 99

In 1984, dystonia was defined by an ad hoc committee of the Dystonia Medical Research Foundation as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements, or abnormal postures. In 2011, dystonia remains a purely clinical diagnosis. Primary dystonia includes syndromes in which dystonia is the sole phenotypic manifestation with the exception that tremor can be present as well. Primary dystonias are typically mobile and may show task specificity. Fixed dystonias are often psychogenic or associated with complex regional pain syndrome. Fixed dystonia may also be the terminal consequence of long-standing, inadequately-treated, severe appendicular or cervical dystonia. The vast majority of primary dystonias have their onset in adults. Late-onset, primary, focal dystonia, particularly blepharospasm, may spread to affect other anatomical segments. Patients with focal dystonia may also exhibit spontaneous remissions that last for years. Although sensory tricks are commonly reported by patients with primary dystonia, they have also been described in subjects with secondary dystonia. Another important sensory aspect of dystonia is pain which is relatively common in cervical dystonia but also reported by many patients with masticatory dystonia, hand-forearm dystonia and blepharospasm. In conclusion, "dystonia" can be used to delimit a clinical sign or loosely define a neuropsychiatric sensorimotor syndrome.
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PMID:Dystonia: phenomenology. 2216 21

BACKGROUND: Dystonia of the eyelids often spreads to affect other muscles in the craniocervical region. Certain blepharospasm-plus subphenotypes may be clinically unique. METHODS: Seven subjects with the subphenotype of late-onset blepharospasm with apraxia of eyelid opening and cervical dystonia with predominant anterocollis were identified from a database of over 1800 patients with primary dystonia. RESULTS: Blepharospasm was the first affected site in 6/7 subjects, followed by spread of the disease to the cervical muscles. Although four patients also had other forms of dystonia (laryngeal, lower face), none showed spread outside the craniocervical region. A family history of dystonia was present in 4/7. No mutations were identified in THAP1 or TOR1A. Overall, blepharospasm was difficult to treat, typically requiring both myectomy and substantial doses of botulinum toxin into the pretarsal orbicularis oculi muscles. In one subject, anterocollis markedly improved after deep brain stimulation. DISCUSSION: Delineation and characterization of craniocervical dystonia subphenotypes may serve to guide genetic and therapeutic studies, in addition to clinical interventions. The blepharospasm with apraxia of eyelid opening and anterocollis subphenotype can be therapeutically challenging.
Tremor Other Hyperkinet Mov (N Y) 2011 Aug 10
PMID:Blepharospasm plus Cervical Dystonia with Predominant Anterocollis: A Distinctive Subphenotype of Segmental Craniocervical Dystonia? 2222 27

Dystonia is characterized by muscle contractions leading to abnormal postures with involuntary twisting and repetitive movements. Inherited dystonia designated by DYT locus symbols can be separated into three broad phenotypic categories: primary torsion dystonia (PTD), where dystonia is the only clinical sign (except for tremor) (DYT1, 2, 4, 6, 7, 13, 17, and 21); dystonia plus loci, where other phenotypes in addition to dystonia, including parkinsonism or myoclonus, are present (DYT3, 5/14, 11, 12, 15, and 16); and paroxysmal forms of dystonia/dyskinesia (DYT8, 9, 10, 18, 19, and 20). Currently, 19 loci including 10 genes have been identified for inherited dystonias. In this review, the phenotypes associated with these loci and the responsible genes will be discussed.
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PMID:Genetics of dystonia. 2226 82

Although rare, many different types of hyperkinetic and hypokinetic movement disorders have been described after both ischemic and hemorrhagic stroke in children and in adults. Current knowledge about these disorders comes from single case reports or small series of cases compiled from retrospective studies. Data from hospital-based studies suggest a prevalence of poststroke movement disorders ranging from 1.1 to 3.9%. However, despite the development of emergency care for stroke, these clinical syndromes remain insufficiently recognized. Poststroke movement disorders take place in the acute phase or following a variable delay after stroke onset, and could be transient or persistent. Dystonia is the most frequent movement disorder, occurring after a delay of several months, while chorea and hemiballism are most frequent in the acute stages. Amongst transient movement disorders, limb shaking is associated with high-grade stenosis or occlusion of the internal carotid artery, while myoclonus and asterixis are rare. From a pathophysiological point of view, most of these symptoms are induced by a lesion involving the basal ganglia, the thalamus, or the frontal subcortical pathways. In this article, we updated the clinical spectrum, neuropathophysiological mechanisms, and prognosis of stroke-induced movement disorders in adults and children.
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PMID:Clinical spectrum of movement disorders after stroke in childhood and adulthood. 2273 57

Dystonia has been defined as a syndrome of involuntary, sustained muscle contractions affecting one or more sites of the body, frequently causing twisting and repetitive movements or abnormal postures. Dystonia is also a clinical sign that can be the presenting or prominent manifestation of many neurodegenerative and neurometabolic disorders. Etiological categories include primary dystonia, secondary dystonia, heredodegenerative diseases with dystonia, and dystonia plus. Primary dystonia includes syndromes in which dystonia is the sole phenotypic manifestation with the exception that tremor can be present as well. Most primary dystonia begins in adults, and approximately 10% of probands report one or more affected family members. Many cases of childhood- and adolescent-onset dystonia are due to mutations in TOR1A and THAP1. Mutations in THAP1 and CIZ1 have been associated with sporadic and familial adult-onset dystonia. Although significant recent progress had been made in defining the genetic basis for most of the dystonia-plus and heredodegenerative diseases with dystonia, a major gap remains in understanding the genetic etiologies for most cases of adult-onset primary dystonia. Common themes in the cellular biology of dystonia include G1/S cell cycle control, monoaminergic neurotransmission, mitochondrial dysfunction, and the neuronal stress response.
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PMID:The genetics of dystonias. 2298 65

Primary dystonia is believed to be rare, and its estimated prevalence is roughly around 10-20 per 100,000 in the general population. In middle-aged or elderly people, the prevalence is much higher, reported to be over 700 per 100,000. Dystonia also occurs secondarily in various conditions, as drug-induced (acute or tardive) dystonia or in association with neurological disorders. Reported prevalence values may be underestimate. The diagnosis of dystonia tends to be delayed for several years after the onset of symptoms, or the symptoms may be left unrecognized or misinterpreted. "Dry eye" is common in the modern society and is a frequent misdiagnosis of blepharospasm. "Stiff sensation of the neck", a ubiquitous symptom among Japanese, may actually be a phenotype of cervical dystonia. A subset of "essential tremor" and tremor in SWEDDs (Scans Without Evidence of Dopaminergic Deficits) reportedly have similar pathophysiology to dystonia. Occupational dystonia is common within a specific population. About 1% of musicians may suffer from musician's dystonia, and about one-third of professional or highly skilled golfers may have "yips", possibly a representation of dystonia. Dystonia is common against a general belief, and should be included among the differential diagnosis in patients with muscular hyperactivity and impaired voluntary movements.
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PMID:[Dystonia as a common status against a common belief]. 2319 18

Neuropathology of hyperkinetic movement disorders can be very challenging. This paper starts with basic functional anatomy of the basal ganglia in order to appreciate that focal lesions like for instance tumor or infarction can cause hyperkinetic movement disorders like (hemi)ballism. The neuropathology of different causes of chorea (amongst others Huntington's disease, neuroacanthosis, and HLD-2) and dystonia (DYT1, PD, and Dopa-Responsive Dystonia) are described. Besides the functional anatomy of the basal ganglia a wider anatomical network view is provided. This forms the basis for the overview of the neuropathology of different forms of tremor.
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PMID:Neuropathological diagnostic considerations in hyperkinetic movement disorders. 2342 Jun 6

The aim of this article is to review movement disorders in children. They are common but have etiology and phenomenology different than in adults. Tics are the most common phenomena although in most instances they are mild and have a favorable long-term prognosis. Dystonia is the second most common phenomena but when present it is usually genetic or idiopathic and causes meaningful disability. Sydenham's chorea is the most common cause of chorea in children worldwide. Systemic lupus erythematosus is a much rarer cause of chorea but it is always to be ruled out given the lack of a specific diagnostic marker for Sydenham's chorea. Tremor, usually caused by drugs or essential tremor, is regarded as rather uncommon in children. Arguably, most pediatric patients with tremor do not seek medical attention because of the lack of disability. Stereotypies are relatively uncommon but their recognition is clinically relevant since they are usually associated with severe conditions such as autism and Rett syndrome. Parkinsonism is quite rare in children and either results from encephalitis or is a side effect of medications. Wilson's disease must be ruled out in all children with movement disorders.
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PMID:Movement disorders in childhood. 2426 64


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