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

Two young males in their thirties are reported with a clinical history and examination indistinguishable from typical females with the Rett syndrome. Both had normal early development. The first patient had a regression by the end of the second year. He was late in walking, had prominent hand-wringing from the age of 4 years, and non-progressive dystonia from the age of 14 years. He is still ambulatory. Seizures which started at the age of 18 months have been easily controlled. The second patient has had a severe seizure disorder since the age of 7 months. In his early teens, he lost ambulation and his height and weight fell below the 2nd percentile. He has severe foot dystonia without spasticity. Both patients have a normal head size and no evidence of atrophy on a CT scan of the brain. Both had kyphoscoliosis in their teens. It is difficult to evaluate the incidence of such cases. Little attention being paid to the normal early development, they hide behind vague diagnoses such as cerebral palsy, static encephalopathy, and behavior disorder. Dystonia is often confused with spasticity, the lack of paralysis is not appreciated, apraxia and hand wringing are assumed to be self-stimulatory behaviors.
 ...
PMID:The Rett syndrome in males. 234 22

A 19-year-old man presented with an apparently non-familial neurological disorder that had progressed from the age of 6 years. Dystonia of the trunk and limbs with extrapyramidal rigidity, dysarthria, a pyramidal syndrome with spasticity of the lower limbs, bilateral optic atrophy, and nystagmiform ocular movements were present. CT scan demonstrated symmetrical putaminal lesions. The different aetiologies of bilateral striatal lesions are considered, the final diagnosis being a juvenile form of Leigh's disease.
 ...
PMID:[Extrapyramidal rigidity with dystonia, optic atrophy and bilateral putaminal lesions in an adolescent. Juvenile form of Leigh's disease (author's transl)]. 710 Jul 40

To evaluate the topographical neurological distribution, patterns of abnormal tone and related functional neuromotor impairment after grade 3 and grade 4 intraventricular/periventricular haemorrhage (IPVH), 33 children with previous grade 3 or 4 IPVH of mean gestational age 30.9 weeks (range 25-40 weeks) and mean birth weight 1743 g (range 866-3600 g) were examined neurologically at 4.7 years (range 0.75-10.8 years). Neurological signs were absent in 10/33 cases which were equally distributed between the grade 3 and grade 4 IPVH groups. The largest single topographical neurological distribution was hemiparesis in 8/23, followed jointly by diplegia (cerebral paraplegia) in 6/23 and triplegia in 6/23 cases and finally quadriplegia in 3/23 cases. Grade 4 IPVH tended to result in asymmetrical syndromes, accounting for 7/8 cases of hemiparesis and 5/6 cases of triplegia, whereas all 3/3 cases of quadriplegia followed grade 3 IPVH. The 6/23 cases of diplegia were shared between the grade 3 and grade 4 IPVH groups. Tone was normal in 7/8 of the hemiparetic subjects. Dystonia was the commonest tone abnormality, affecting 8/23 children with neurological disturbance, followed by ataxia/hypotonia in 4/23 and mixed dystonia/hypotonia in 3/23. Only 1/23 cases had signs of spasticity. Spasticity is rare following severe IPVH. Diplegic children had a better functional neuromotor grade than hemiparetic children, who in turn did better than triplegic children. Ataxia hypotonia resulted in better functional outcome than dystronia, which in turn was more favourable than mixed tone patterns. Cranial imaging by ultrasound (US) or computed tomographic (CT) scanning proved an unreliable prognostic indicator except in the case of hemiparesis, for which US scans correctly predicted the affected side in 5/7 cases. The neurological syndromes following severe IPVH differ from the classical encephalopathy of prematurity, and this should lead to a re-appraisal of the trends in the prevalence of cerebral palsy. Caution should be exercised in the interpretation of cranial imaging with regard to pessimistic prognoses in the presence of changes or undue optimism in their absence.
 ...
PMID:Heterogeneity of neurological syndromes in survivors of grade 3 and 4 periventricular haemorrhage. 840 2

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.
 ...
PMID:A spectrum of dystonias-clinical features and update on management. 1127 44

The aim of this study was to evaluate the effects of intrathecal bacolfen (ITB) on patients with severe generalized dystonia. Eighty-six participants ranging in age from 3 to 42 years (median age 13 years) with generalized dystonia refractory to oral medications were offered treatment with ITB. Dystonia was associated with cerebral palsy in 71% of participants. Response to ITB was tested by continuous infusions in 72%, and by bolus injections in 17% of participants who had both dystonia and spasticity. Ninety-one percent of participants responded to the screening infusion and 93% to the bolus injections. Pumps were implanted in 77 participants. Dystonia scores at 3, 6, 12, and 24 months were significantly decreased (p<0.005) compared with baseline scores. Dystonia scores were significantly lower in those with intrathecal catheters positioned at T4, or higher than in those with catheters at T6 or lower (p=0.005). Ninety-two percent of participants implanted with a pump retained their responses to ITB during a median follow-up of 29 months. Patient questionnaires indicated that quality of life and ease of care improved in 86% and speech improved in 33%. Side effects of ITB occurred in 26% of participants. Surgical complications occurred in 38% and included CSF leaks, infections, and catheter problems. ITB is probably the treatment of choice for generalized dystonia if oral medications are ineffective.
 ...
PMID:Intrathecal baclofen for generalized dystonia. 1166 21

The arguments over the nomenclature of the syndrome are reviewed. Ethical considerations favour replacing the present eponyms with the title of panthothenate kinase-associated neurodegeneration (PKAN), now that more is known about the cause of the condition. The symptoms and signs of the syndrome are described, and these can present from infancy to adult life. Dystonia, involuntary movements and spasticity are prominent causes of disability. If the onset is delayed the presentation can be unusual. Tests that can help in diagnosis are reviewed, especially the "eye of the tiger" revealed by magnetic resonance imaging scanning. Death usually occurs about 10 years after the onset, but the course may be more prolonged. The findings on autopsy are also considered, with the typical findings of iron pigment deposits and axonal spheroids. Then the causes are discussed. Once the responsible gene PANK2 had been discovered on chromosome 20 it was found that this encoded for pantothenate kinase which is essential for the synthesis of coenzyme A from pantothenate; and this is integral to fatty acid synthesis and energy metabolism. Also this can lead to a concentration of cysteine in the basal ganglia, and then to an accumulation of iron in these areas. The cysteine-iron complex will result in tissue damage by promoting oxidative stress, as in some other neurodegenerative diseases. The syndrome of PKAN can therefore be identified as a disorder of pantothanate, vitamin B5, metabolism. Infantile neuroaxonal dystrophy is briefly described as there have been suggestions that it is a variety of PKAN, but the evidence is in favour of the two diseases being separate entities. There may as yet be no specific treatment for this syndrome, but much can be done to help these children. Drugs may be needed to control epilepsy, and when dystonia is severe it may be possible to alleviate this by medical or surgical means. Also there will be other problems needing expert management, such as the provision of alternative means of communication if dysarthria is marked. The hope for the future is that now the cause has been found it will be possible to use methods such as antioxidative therapy and gene induction procedures.
 ...
PMID:Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome). 1237 76

Selecting and evaluating appropriate treatments for children with cerebral palsy has been challenging. One difficulty is in the ability to quantify the presence and importance of coexisting motor signs. This study presents quantitative measures developed to assess spasticity and dystonia. Children diagnosed with extrapyramidal or spastic cerebral palsy and matched control children were studied. Spasticity was measured as the slope of the force-velocity relationship from a test where we measured the forces required to passively extend the elbow at different velocities. Dystonia was assessed by measuring "overflow" movements of arm during active movement of the other arm. Measures of dystonia and spasticity did not correlate with one another, but did correlate with their respective clinical measurement tools, the Modified Ashworth scale and the Barry-Albright Dystonia scale. Most children had a combination of both spasticity and dystonia, despite diagnosis. Our measures also related to different aspects of reaching: children with increased dystonia made more curved paths, and children with increased spasticity hit higher peak velocities. These measurements allow us to distinguish between different motor disorders and the degree to which each contributes to reaching performance. Use of quantitative measures should improve selection and evaluation of treatments for childhood motor disorders.
 ...
PMID:Can spasticity and dystonia be independently measured in cerebral palsy? 1713 5

Involuntary up-going toe can be a disabling consequence of dystonia or spasticity. In this study, we treated eight patients with botulinum toxin (BTx) in the extensor hallucis longus (EHL) and applied objective and subjective outcome measures to determine treatment efficacy. Using 100% higher doses than generally reported, patients noted 62+/-20% mean benefit and scores on a modified Fahn-Marsden Dystonia Scale decreased significantly by 1.8+/-0.6 (p=0.010). High doses (up to 160 BTx A units) into the EHL were safe and dosage correlated highly and significantly with treatment efficacy (rho=0.859, p=0.006).
 ...
PMID:High doses of botulinum toxin effectively treat disabling up-going toe. 1788 97

Dystonia is a symptom defined by involuntary and irregular contractions of the muscles, which cause movement disorders and postural problems. Deep brain stimulation (DBS) in globus pallidus interna (GPi) is a good option for controlling dystonia. DBS has already been shown to have significant effects on primary dystonia as well as Parkinson's disease. Dystonia is very difficult to manage, as seen in cerebral palsy (CP) mixed with spasticity. As CP patients grow, their musculoskeletal problems may require orthopedic surgery. However, the outcome of orthopedic surgery is not usually suitable due to dystonia. Therefore, we attempted to control dystonia through DBS initially and perform orthopedic surgery to correct musculoskeletal deformities after treatment of dystonia. Herein, we report a case that showed remarkable improvement in terms of the dystonia rating scale and gait pattern after combined therapy of DBS and orthopedic surgery.
 ...
PMID:Combined therapy of orthopedic surgery after deep brain stimulation in cerebral palsy mixed type - a case report -. 2250 1

We assessed the impact of videotape analysis on scoring of the Hypertonia Assessment Tool (HAT) that discriminates between hypertonia subtypes. The HAT was administered to 28 children with cerebral palsy (mean age 9 years, range 4-17 years, 61% male). HAT examinations were videotaped; scores were assigned before and after videotape review. Neurological examination provided the gold standard diagnosis. Interrater reliability, criterion validity and individual item validation were assessed using prevalence and bias-adjusted kappa (PABAK). Videotape review did not significantly change the HAT item scores or diagnoses. Item validation eliminated 1 dystonia item. Interrater reliability was moderate for dystonia (PABAK = 0.43) and excellent for spasticity and rigidity (PABAK = 0.86-1.0). Criterion validity was substantial for spasticity (PABAK = 0.71), moderate for dystonia (PABAK = 0.43-0.57) and excellent for the absence of rigidity (PABAK = 1.0). The HAT can be administered without videotape review. Dystonia item 1 did not change the HAT hypertonia diagnosis and will be removed from the HAT.
 ...
PMID:Further evaluation of the scoring, reliability, and validity of the Hypertonia Assessment Tool (HAT). 2358 88


1 2 Next >>