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)

Our experience is based on a series of 25 patients suffering from infantile dyskinesias and dystonias who underwent stereotaxic surgery of basal ganglia. We first note the immediate good results (77%) obtained by thalamo-sub-thalamotomy. Concerning dyskinesia this type of surgery enjoys in an opinion a place of choice. Secondly we have been able to estimate secondary deterioration on long term results in patients examined 2 to 15 years post-operatively. In contrast to various results reported in the literature good long term results are not superior to 50%. Some deterioration is noted in patients operated on for choreo-athetosis over the age of 20. A pallido-subthalamic lesion is efficient at the beginning of the disease course since it improves motor performance and thereby helps possibilities of intellectual acquirement. Bilateral lesions have after improved I.Q. Effects of this treatment specially on spasticity must be discussed among other types of surgery.
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PMID:Long term results of stereotaxic surgery for infantile dystonia and dyskinesia. 78 89

The effect of Cervical Epidural Spinal cord Electrical Stimulation (E.S.E.S.) was studied in 15 patients with cerebral palsy. Spasticity and dyskinesia, daily functioning and the emotional and physical burden of this therapy for the patients were examined. Twelve patients did not continue the treatment after completing the study, because of lack of symptomatic or functional improvement and many complications due to broken or migrated electrodes. Two patients still continue E.S.E.S. and a third is awaiting replacement of a broken electrode. None of these three patients showed a clear improvement of the ADL scale or the disability score. E.S.E.S. cannot be recommended as a symptomatic treatment for cerebral palsy patients.
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PMID:[Cervical epidural spinal cord stimulation in infantile encephalopathy]. 221 27

Authors report a study concerning 12 dyskinetic patients with cerebral palsy. The clinical pre-operative examination shows that many signs and symptoms are associated: volitional and postural dyskinesia, athetosis and dystonia, pyramidal deficit and spasticity. Talairach's stereotactic methodology has been used for bifocal (VPL thalamic nucleus and internal pallidum) Yttrium 90 implantation. After stereotactic bifocal lesions, involuntary movements have been reduced in 45.5% of cases and have disappeared in 27% of cases. Impairment of previous motor deficit has been observed in 3% of cases; volitional and postural dyskinesia seems to be the most curable symptomatology. Clinical results in athetoid involuntary movements and dystonia are less rewarding. Because of important anatomical modifications often observed cerebral palsy patients, the authors stress the interest of individual acute neurophysiological study and discuss about the stereotactic targets and the modalities of destruction. They insist upon the necessity of rigorous selection of indications based on acute clinical examination in the perspective of improvement of global functional capacities.
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PMID:[Value of bifocal stereotaxic destruction in case of dyskinesia in patients with a motor deficit of cerebral origin]. 332 99

A 74-year-old woman with corticobasal degeneration (CBD) had a 9-year history of progressive loss of strength and rigidity of her right hand and then arm, followed by speech difficulties, dyskinesia, rigidity, spasticity and weakness of the ipsilateral lower limb, ultimately also involving the opposite side. She later developed supranuclear gaze palsy. Her memory remained intact during most of the duration of her disease. Laboratory tests and anti-Parkinsonian medications were not helpful. At autopsy, frontal lobe atrophy, discoloration of putamen (Pt) and pallor of substantia nigra (Sn) were observed. Neuronal loss and gliosis were extensive in motor cortex and milder in frontal cortex, abruptly ending at the central sulcus and junction of cingulate gyrus. "Achromatic" neurons were present. Neuronal loss and gliosis were seen in Pt and Sn and corticobasal inclusions in Sn. Numerous Gallyas/tau-positive, Bielschowsky/ubiquitin-negative coil, sickle, or coma-shaped tangles and thread-like processes were found in affected cortex, Pt and Sn. Some of the tangles were in neurons, but most occurred in astroglia, and their processes. The presence of Gallyas/tau-positive glia in CBD may have the same diagnostic significance as in progressive supranuclear palsy, analogous to the argyrophilic ubiquinated inclusions in oligodendroglia in multisystem atrophy. We suggest that in CBD: (1) cytoskeletal protein metabolism in neurons and glia can simultaneously be perturbed in certain neurodegenerative diseases, and (2) the astrocytosis in CBD may not be simply a reactive process but an integral part of the disease.
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PMID:Unusual case of corticobasal degeneration with tau/Gallyas-positive neuronal and glial tangles. 787 9

Clinical characteristics of late deterioration in adult cerebral palsy were reported with detailed neurological evaluations and analyses. 10 adult cases, 9 male and 1 female, with cerebral palsy (CP) were included aged from 24 to 58 years on admission. Without marked mental retardation all had been ambulant and completely independent of ADL with residual spasticity and/or dyskinesia of minimal degree until the second or third decade. Late deterioration of functional abilities starting with numbness or pain in upper extremities at age 24-45 (mean: 36.2 y), associated with profound atrophy of the shoulder girdle and hand muscles. Dyskinesia and spasticity markedly aggravated with urinary and respiratory dysfunctions, resulting in tetraplegia in a couple of years. Mentality is generally unaffected, however, severe dementia occurred in one case. Intensive clinical examinations revealed no particular abnormalities except for mild segmental neurogenic changes by needle EMG. Neuroradiological surveys revealed a marked narrowing of upper to middle cervical spinal canal with deformity and shrinkage of the corresponding cord in most cases. Cranial CT scans and MRI were unremarkable except for diffuse cortical atrophy and ventricular dilation. These studies showed that in adult CP an unexpectedly severe deterioration of sensory, motor and/or mental functions may appear even in previously well achieved cases. These dramatic changes of the clinical features of CP after middle age might be suggestive of the degenerating process and precocious aging of the CNS.
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PMID:[Late deterioration of functional abilities in adult cerebral palsy]. 829 72

Baclofen (Lioresal) is a derivative of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA). It is used to treat spasticity particularly for the relief of flexor spasms, pain, clonus, and muscular rigidity. There have been many rare neurologic side effects reported with its use. These side effects, in particular, hallucinations and seizures, have been observed predominantly following precipitous withdrawal of the drug. We present a case demonstrating a muscular dyskinetic side effect when baclofen treatment was first initiated. The mechanism by which baclofen affects spasticity and how the resulting side effect of dyskinesia developed in our patient is not known. They are, however, most probably related to dopamine receptor hypersensitivity and the resulting imbalance of the dopaminergic/cholinergic systems. Clinicians should be aware of this additional adverse effect of muscular dyskinesia, with the use of baclofen, and its reversibility when baclofen is discontinued.
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PMID:Baclofen-induced dyskinesia. 832 1

We studied the clinical features and molecular genetics of a family, afflicted with a form of atypical parkinsonism, originating from the Madeira Islands of Portugal. We examined four affected individuals and reviewed clinical information on one other affected family member. Mean age at onset was 31 years. Parkinsonism (akinesia, rigidity, gait disturbance) was the most prominent feature in advanced disease. Levodopa responsiveness with peak-dose dyskinesia was present in one individual. Initial symptoms and other clinical features were variable and included other extrapyramidal signs (dystonia, action tremor of the limbs and bulbar muscles, synkinesis), ophthalmologic abnormalities (ptosis, slow saccades, progressive external ophthalmoplegia, hypometric saccades, saccadic pursuit movements), speech abnormalities (dysarthria, hypernasality), cortical impairment (dementia, frontal lobe dysfunction, palilalia, perseveration), minor cerebellar signs (dysmetria, gait ataxia), pyramidal abnormalities (spasticity, hyperreflexia), and peripheral nervous system abnormalities (propioceptive loss, areflexia, distal weakness, atrophy). The length of trinucleotide repeats in the MJD1 gene was in the normal range for all affected individuals.
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PMID:Atypical parkinsonism in a family of Portuguese ancestry: absence of CAG repeat expansion in the MJD1 gene. 915 59

The clinical classification of children with cerebral palsy is limited by multiple factors. Distinguishing between spasticity and dyskinesia is critical, because the outcome after standard orthopaedic and neurosurgical interventions is less predictable in children with cerebral palsy who have a significant dyskinetic component. This study applied computer-based analysis of gait to assess objectively the presence of significant dyskinesia in children with cerebral palsy. Three-dimensional gait analysis was performed on 18 normal children, 17 children with principally spastic cerebral palsy, and 23 children with significantly dyskinetic cerebral palsy. Children were assigned to the spastic or dyskinetic groups prospectively, based on clinical analysis by an experienced physician and physical therapist. The children with dyskinesia were found to have a significantly wider, and more variable normalized dynamic base of support, a smaller step profile (step length divided by step width), and a greater and more variable maximal lateral acceleration than the spastic and normal groups (mixed model analysis of variance, p = 0.0001). A predictive model of dyskinesia, (developed by logistic regression analysis), using these gait parameters, exhibited excellent sensitivity, correctly classifying 20 (87%) of 23 children as dyskinetic. This study shows that children with dyskinetic cerebral palsy have distinct gait parameters and that objective assessment of dyskinesia in children with cerebral palsy is possible with computer-based analysis of gait.
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PMID:Objective assessment of dyskinesia in children with cerebral palsy. 1008 91

We describe here familial dyskinesia and facial myokymia (FDFM), a novel autosomal dominant disorder characterized by adventitious movements that sometimes appear choreiform and that are associated with perioral and periorbital myokymia. We report a 5-generation family with 18 affected members (10 males and 8 females) with FDFM. The disorder has an early childhood or adolescent onset. The involuntary movements are paroxysmal at early ages, increase in frequency and severity, and may become constant in the third decade. Thereafter, there is no further deterioration, and there may even be improvement in old age. The adventitious movements are worsened by anxiety but not by voluntary movement, startle, caffeine, or alcohol. The disease is socially disabling, but there is no intellectual impairment or decrease in lifespan. A candidate gene and haplotype analysis was performed in 9 affected and 3 unaffected members from 3 generations of this family using primers for polymorphic loci closely flanking or within genes of interest. We excluded linkage to 11 regions containing genes associated with chorea and myokymia: 1) the Huntington disease gene on chromosome 4p; 2) the paroxysmal dystonic choreoathetosis gene at 2q34; 3) the dentatorubral-pallidoluysian atrophy gene at 12p13; 4) the choreoathetosis/spasticity disease locus on 1p that lies in a region containing a cluster of potassium (K+) channel genes; 5) the episodic ataxia type 1 (EA1) locus on 12p that contains the KCNA1 gene and two other voltage-gated K+ channel genes, KCNA5 and KCNA6; 6) the chorea-acanthocytosis locus on 9q21; 7) the Huntington-like syndrome on 20p; 8) the paroxysmal kinesigenic dyskinesia locus on 16p11.2-q11.2; 9) the benign hereditary chorea locus on 14q; 10) the SCA type 5 locus on chromosome 11; and 11) the chromosome 19 region that contains several ion channels and the CACNA1A gene, a brain-specific P/Q-type calcium channel gene associated with ataxia and hemiplegic migraine. Our results provide further evidence of genetic heterogeneity in autosomal dominant movement disorders and suggest that a novel gene underlies this new condition.
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PMID:Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. 1131 Jun 26

We present two siblings with pontocerebellar hypoplasia who have progressive microcephaly, mental and motor retardation, truncal ataxia, strabismus, and progressive spasticity and hyperreflexia of the lower limbs. Extrapyramidal dyskinesia and epilepsy, other main clinical features of pontocerebellar hypoplasia, are absent. The older sibling also has a high arched palate, triangular-shaped face, thoracolumbar scoliosis, pectus carinatum, kyphosis, cubitus valgus, arachnodactyly, long extremities, and a tall stature, which were not previously reported in association with pontocerebellar hypoplasia. The clinical phenotype should be expanded, especially within type II, with the reports of additional cases.
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PMID:Pontocerebellar hypoplasia in two siblings with dysmorphic features. 1191 77


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