Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 46-year old man presented with progressive cerebellar ataxia for 5 years. Physical examination revealed palatal and tongue myoclonus, cerebellar gait, limb ataxia and spasticity of the lower extremities. The imaging studies including CT-scan and MRI of the brain revealed progressive pancerebellar atrophy and bilateral hypertrophic degeneration of inferior olives. The clinical course was slowly progressive. Various medications included anticonvulsants, benzodiazepines and antispasticity failed to abolish the abnormal palatal movement and ataxic syndrome. The syndrome of progressive ataxia and palatal myoclonus is a rare and unique neurodegenerative syndrome. The pathogenesis and treatment are still unknown.
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PMID:Syndrome of progressive ataxia and palatal myoclonus: a case report. 1065 52

Dystonia is an interesting disorder characterized by involuntary movement of the body part or parts leading to abnormal deformed postures. The usual signs and symptoms are local pain, spasm and abnormal movements. Sensory trick is an important clinical phenomenon and is characteristic of dystonia. It is usually separated from other movement disorders such as chorea, athetosis, tics and myoclonus clinically. Various non-dystonic conditions simulate dystonia and need to be separated in view of different line of management. Improved understanding in molecular biology has helped in understanding of the disease. Confusing neuropathology and neurochemistry have deterred the finding of an effective drug, however empirical use of few drugs have improved the gloomy situation. Few conditions such as dopa-responsive dystonia have definite treatment. Recently use of botulinum toxin has provided beneficial response in hyper muscular contraction states such as dystonia and spasticity, Surgery and other non-medical therapies are effective in few situations.
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PMID:A spectrum of dystonias-clinical features and update on management. 1127 44

We report a 28-year-old woman with spinocerebellar ataxia type 8 (SCA 8). This patient began to exhibit dysarthria at the age of 19. At the age of 25, she fell and hit her head while drunk and then a neurosurgeon found that her cerebellum was atrophic on cranial CT and MRI. Neurological examination on admission to our hospital revealed ataxic speech, limb ataxia and mild hyperreflexia without Babinski's sign. Cranial MRI showed only mild atrophy of the cerebellar hemispheres and vermis. Based on the results of genetic analysis, which showed expanded CTG repeats[(CTA) 13 (CTG) 5 (CCG) 4 (CTG) 124] on the SCA 8 locus at 13q21, she was diagnosed as having SCA 8. As clinical signs of SCA 8, Koob et al. reported limb spasticity and diminished vibration perception including cerebellar ataxia. Furthermore, Hirose et al. and Satoh et al. reported cases showing involuntary movements such as myoclonus or chorea including cerebellar ataxia. Our case and Ikeda's cases presented a pure cerebellar phenotype. We think that SCA 8 exhibits clinical heterogeneity. On the other hand, Stevanin et al. and Worth et al. expressed doubt as to whether the SCA 8 locus at 13q21 is the gene actually responsible for autosomal dominant cerebellar ataxia (ADCA). We conclude that it is necessary to accumulate additional case reports, and to further investigate the relationship between the clinical findings and the results of genetic analysis in order to determine whether or not the SCA 8 locus at 13q21 is the genetic basis for ADCA.
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PMID:[A familial case of spinocerebellar ataxia type 8 (SCA 8)--its clinical findings and an issue about the genetic basis]. 1133 93

Pediatric movement disorders constitute a relatively small cluster of symptoms that can be associated with many different underlying diseases. To provide effective treatment, it is essential to understand the relationship between etiology and clinical expression. This article reviews the recent literature on several common pediatric movement disorders, including spasticity, dystonia, chorea, myoclonus, bradykinesia, and tics, and it discusses current models of physiology that may help link the cellular pathology of specific diseases to the expression of clinical symptoms.
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PMID:Pathophysiology of pediatric movement disorders. 1367 68

High doses of parenteral opioids can cause multifocal myoclonus and seizures. Spasticity has been reported in patients receiving intraspinal opioids. In this article, we describe a patient who developed reversible spastic paraparesis with prominent extensor spasms in the legs while receiving an infusion of intravenous methadone at 100 mg/hr. We discuss clinical presentation and possible pathophysiologic mechanisms of opioid side effects on the somatic motor system.
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PMID:Reversible spastic paraparesis induced by high-dose intravenous methadone. 1462 89

We compared the electroclinical features and evolution of patients with two different types of abnormal cortical organization: unilateral closed-lip schizencephaly (SCHZ) and unilateral polymicrogyria (PMG). Between February 1990 and June 2002, 51 children with either unilateral PMG or closed-lip SCHZ were selected through neuroradiological analysis for investigation at our service. We evaluated the frequency of epilepsy, electroclinical features and evolution. The mean time of follow-up was 7 years (range 1-12 years). All patients underwent neurological examination, computed tomography scan and magnetic resonance imaging, serial electroencephalographic (EEG) recordings and neuropsychological assessment. Thirty-six of the 51 patients had unilateral PMG. All patients had hemiparesis with mild spasticity. Mental retardation was mild in 20 and moderate in 14. In two patients IQ was normal. Partial motor seizures were recorded in 28 patients, with secondary generalization in 20. The median age at onset of seizures was 2 years (range 4 months-7 years). Interictal EEGs showed unilateral spikes in all patients. In 21 patients epilepsy worsened between the ages of 4 and 8 (mean 5.6 years) with frequent atonic seizures, atypical absences, epileptic negative myoclonus and gait difficulties. EEGs showed continuous spike-wave activity or bilateral high-frequency spike discharges during slow-wave sleep. Frequent relapses of atonic and myoclonic seizures were seen in nine patients. At present, 16 patients are seizure-free. Fifteen patients with unilateral SCHZ were included in the study. Focal motor seizures were registered in seven cases, in three of them with secondary generalization. The median age at onset of epilepsy was 2.5 years (range 1-4 years). Interictal EEGs showed unilateral spikes in these seven cases. All patients except one presented mild spastic hemiparesis. Mental retardation was mild in ten children, moderate in two and IQ was normal in three. Although the underlying mechanisms leading to PMG and SCHZ are probably similar, the electroclinical phenomenon of secondary bilateral synchrony with frequent negative myoclonus was not present in our cases with unilateral closed-lip SCHZ.
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PMID:Unilateral closed-lip schizencephaly and epilepsy: a comparison with cases of unilateral polymicrogyria. 1503 Sep 2

Head injury can cause extrapyramidal movement disorders such as tremors, parkinsonism, dystonia, chorea, myoclonus, and tics. Pure adventitious movements are rare, but combinations with paresis, spasticity, apraxia, or ataxia occur in approximately 20% of cases of severe head injury, in many cases appearing or evolving in the months following the injury. Tremors may improve in time but many of the other syndromes tend to persist. Reversible causes such as medications or metabolic derangements are occasionally identifiable. Some of these adventitious movements can be improved using neuroactive drugs, botulinum toxin injections, or stereotactic brain surgery.
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PMID:Movement disorders after head injury: diagnosis and management. 1526 58

Movement disorders (ataxia, dystonic disorders, gait disorders, Huntington disease, myoclonus, parkinsonism, spasticity, tardive dyskinesia, tics and tremor) are clinically, pathologically and genetically heterogeneous and are characterized by impairment of the planning, control or execution of movement. Current classifications of these disorders have inherent shortcomings due to the complex nature of movement disorders and the lack of diagnostic tests for the majority. Undiscriminating terminology, as well as the clinical, pathological and genetic heterogeneity, further complicate the development of comprehensive categorizations. Modern classification schemes tend to focus on clinical, pathological or genetic/molecular criteria, but more recent attempts have been made to integrate across these levels. From a historical perspective, two 'golden ages' have shaped the current and evolving classification schemes: (1) the definition of clinical pathological entities in the early twentieth century and (2) the application of molecular neurogenetics in the past 10-15 years. However, the classification of movement disorders on clinical grounds (according to age at onset, distribution of symptoms, disease course, provoking factors and therapeutic response) remains one of the most useful modes of categorization. Postmortem criteria have been employed to distinguish between degenerative and nondegenerative disorders, and specific hallmarks may be required to establish or confirm a diagnosis. Genetic features used for classification purposes include mode of inheritance and molecular genetic data, such as linkage to a known gene locus or identification of a specific genetic defect. A final classification scheme is based on alterations in molecular mechanisms (e.g. trinucleotide expansions) or protein function (e.g. channelopathies). Despite recent advances, it may not be possible to develop the 'ultimate' classification of movement disorders, and different patterns of lumping and splitting may be useful for the clinician, the pathologist or the geneticist/molecular biologist. Furthermore, certain individual cases with unique features may not fit into any particular category. Continued research by both clinicians and basic scientists is necessary in order to refine and redefine classification schemes of movement disorders.
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PMID:Movement disorders: classifications. 1586 75

Kufor Rakeb disease is an autosomal recessive disorder characterized by subacute, juvenile-onset, levodopa-responsive parkinsonism, pyramidal signs, dementia, and a supranuclear gaze palsy. It was originally described more than a decade ago, and linkage analysis identified a locus on chromosome 1p36 that was previously assigned PARK9. We have further characterized the clinical picture and specifically re-assessed the response to levodopa in the original family, in the northern highlands of Jordan. In the 4 surviving patients, there has been a narrowing of the therapeutic window for levodopa with the emergence of peak-dose dyskinesias with increased spasticity and cognitive decline. Several new features were identified, including facial-faucial-finger mini-myoclonus, visual hallucinations, and oculogyric dystonic spasms.
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PMID:Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. 1598 21

To review the literature on primary dystonia and dystonia plus and to provide evidence-based recommendations. Primary dystonia and dystonia plus are chronic and often disabling conditions with a widespread spectrum mainly in young people. Computerized MEDLINE and EMBASE literature reviews (1966-1967 February 2005) were conducted. The Cochrane Library was searched for relevant citations. Diagnosis and classification of dystonia are highly relevant for providing appropriate management and prognostic information, and genetic counselling. Expert observation is suggested. DYT-1 gene testing in conjunction with genetic counselling is recommended for patients with primary dystonia with onset before age 30 years and in those with an affected relative with early onset. Positive genetic testing for dystonia (e.g. DYT-1) is not sufficient to make diagnosis of dystonia. Individuals with myoclonus should be tested for the epsilon-sarcoglycan gene (DYT-11). A levodopa trial is warranted in every patient with early onset dystonia without an alternative diagnosis. Brain imaging is not routinely required when there is a confident diagnosis of primary dystonia in adult patients, whereas it is necessary in the paediatric population. Botulinum toxin (BoNT) type A (or type B if there is resistance to type A) can be regarded as first line treatment for primary cranial (excluding oromandibular) or cervical dystonia and can be effective in writing dystonia. Actual evidence is lacking on direct comparison of the clinical efficacy and safety of BoNT-A vs. BoNT-B. Pallidal deep brain stimulation (DBS) is considered a good option, particularly for generalized or cervical dystonia, after medication or BoNT have failed to provide adequate improvement. Selective peripheral denervation is a safe procedure that is indicated exclusively in cervical dystonia. Intrathecal baclofen can be indicated in patients where secondary dystonia is combined with spasticity. The absolute and comparative efficacy and tolerability of drugs in dystonia, including anticholinergic and antidopaminergic drugs, is poorly documented and no evidence-based recommendations can be made to guide prescribing.
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PMID:A systematic review on the diagnosis and treatment of primary (idiopathic) dystonia and dystonia plus syndromes: report of an EFNS/MDS-ES Task Force. 1672 65


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