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)

The orthopaedic surgeon is often the first consultant to whom a patient with syringomyelia is referred. The disease is not as rare as he may suppose, but its early presenting features are very variable; if he relies solely on such familiar features as pes cavus and scoliosis, he may well miss the diagnosis. The commonest presenting symptom is pain in the head, neck, trunk or limbs; headache or neckache made worse by straining is particularly significant. A history of birth injury also may suggest the possibility of syringomyelia, especially if any spasticity subsequently worsens. Neurological features which may be diagnostic include nystagmus, dissociated sensory loss, muscle wasting, spasticity of the lower limbs or Charcot's joints. Radiographic features include erosion of the bodies of cervical vertebrae and widening of the spinal canal; if, at C5, the size of the canal exceeds that of the body by 6 millimetres in the adult, pathological dilatation is present. The presence of basilar invagination or other abnormalities of the foramen magnum, of spina bifida occulta and of scoliosis are further pointers. Thermography is a useful way of showing asymmetrical sympathetic involvement in early cases. A greater awareness of the prevalence of syringomyelia may lead to earlier diagnosis and to early operation, which appears to hold out the best hope of arresting what is all too commonly a severely disabling and progressive condition.
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PMID:Orthopaedic features in the presentation of syringomyelia. 15 24

Thw radiological appearances found in the pelvis and hip joints in 79 patients with cerebral palsy, aged 5--16 years, have been studied. These findings have been recorded and correlated with the clinical severity and distribution of the disease. Subluxation of the hip joints was found in 14% and dislocation in a further 6%. Spasticity was the predominant neuromuscular handicap in 69 out of 79 cases (88%). The acetabular angle and femoral neck shaft angle were related to the degree of migration of the femoral head. The acetabular angle, iliac angle, iliac index and femoral neck shaft angle were all significantly increased in the deranged group. In the dislocated group, the mean neck-shaft angle was 154 degrees. When the degree of spasticity was asymmetrical, there was a striking relationship between the laterality of the spasticity and the laterality of the deranged hip, pelvic obliquity and increased acetabular angle. A typical teardrop-shaped femoral head was seen in 48% spina bifida occulta of the lower lumbar and sacral spine in 32% and pseudoarthrosis in 3.8%. No ectopic calcification or ossification of soft tissue was noted. An awareness that these children are at risk from subluxation and dislocation of the hip and the importance of early diagnosis and treatment are emphasised.
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PMID:The radiology of the hip joints and pelvis in cerebral palsy. 87 Feb 80

The asymmetrical deformities in 20 children with various types of cerebral palsy are compared with 20 children without cerebral palsy who have the so-called 'squint' baby syndrome (asymmetrical deformities of plagiocephaly, unilateral bat ear, facial and thoracic asymmetry, pelvic obliquity and apparent shortening of one leg). It is suggested that the 'squint' baby syndrome and the 'windswept' child syndrome in children with cerebral palsy are stages of the same syndrome and that in both the deformities are caused by the effect of gravity on an immobile growing child, rather than spasticity or muscle imbalance. Asymmetrical deformity should therefore be amenable to physiotherapeutic intervention, rather than trying to modify maturation of the damaged brain. As the 'windswept' cerebralpalsied child can develop some of the most severe deformities seen in cerebral palsy, it is important that asymmetrical deformities should be prevented.
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PMID:Position as a cause of deformity in children with cerebral palsy. 1848 54

A Danish family with seven males with hydrocephalus in three generations is described. Frequent findings in this x-linked recessive form of the disease are irregular cranium, asymmetrical face, thumb held across palm, spasticity of the legs and paradoxical plantar responses. The literature on this mode of inheritance is reviewed.
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PMID:Sex-linked hydrocephalus. 118 43

Thirty-eight cases of subacute sclerosing panencephalitis (SSPE) were reviewed. Deterioration in school performance, personality changes, and seizures were common early symptoms. Initial examination frequently showed myoclonus, spasticity, and extrapyramidal dysfunction, and in two-thirds of patients these findings were asymmetrical or focal. Retinitis or papilledema was present on initial examination in 50% of the patients. At last follow-up 24 children had died, with a mean survival of 42 months. Most patients reached a state of severe neurological impairment within 13 months. Subsequent evidence of improvement was noted in 10 children and was sustained in 4. Fifteen patients received antiviral treatment. Ten treated patients died from 5 to 133 months (mean, 58) from onset of their illness, while 15 untreated patients survived a mean of 33 months. Duration of survival appeared to be affected most by treatment with amantadine. Three patients treated with the drug were alive 97 to 139 months after onset of SSPE, and 5 died with a mean survival of 78 months. Five of 6 individuals treated with rifampin died after a mean survival of 27 months. Prolonged remissions occurred only in patients treated with amantadine. Although the number of treated individuals was small, our data suggest that amantadine may affect the natural course of SSPE.
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PMID:Review of 38 cases of subacute sclerosing panencephalitis: effect of amantadine on the natural course of the disease. 743 85

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.
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PMID:Heterogeneity of neurological syndromes in survivors of grade 3 and 4 periventricular haemorrhage. 840 2

To study the clinical picture of lathyrism in Unnao, India and compare it with that reported from other endemic areas, 41 patients from Unnao were studied. Their mean age was 42.9 years (range 22-85) and the mean duration of the illness was 17.1 years (range 2-30). They had been regularly consuming Lathyrus Sativus (LS). The patients complained of walking difficulty due to weakness and leg stiffness (32 each), and of frequency of micturition (4). Gait abnormalities included spastic gait (24), toe walking (18) and the necessary use of walking sticks (13). Weakness was mild to moderate, and was less prominent than was spasticity. In 8 patients the physical signs were asymmetrical. Peripheral neuropathy was present in only one patient, but muscle atrophy and widespread fasciculations were not found. A higher frequency of peripheral neuropathy and lower motor neuron involvement has been reported from Bangladesh and Israel. Severe spasticity in the absence of prominent weakness in lathyrism may be due to the involvement of certain specific groups of corticospinal fibres.
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PMID:Clinical aspects of neurolathyrism in Unnao, India. 849 40

The rapidly expanding use of magnetic resonance imaging (MRI) in children with neurological impairments of unknown aetiology has revealed a large number of children with abnormalities of the cerebral white matter, some with leukodystrophy-like white matter abnormalities on MRI, but non-progressive in clinical presentation and course. The aim of this study was to investigate the clinical and neuroradiological characteristics of 26 children with white matter abnormalities of unknown origin and to find diagnostic clues or indicators of progressive versus nonprogressive disease. The typical child with white matter abnormalities was characterized by onset of symptoms within the first year of life, most often presenting as general developmental delay and hypotonia. Later-appearing signs were spasticity and ataxia and as a rule severe learning and motor disabilities. Serious ophthalmological signs were frequently seen. Perinatal adverse events were rare, infectious aetiologies not indicated but prenatal stigmata relatively common. The clinical course was progressive in 11 children and non-progressive in 15. Late onset presentation was associated with a progressive course whereas prenatal stigmata and asymmetrical white matter lesions only were found in children with a non-progressive disorder. The MRI showed three main patterns: a) a generalized increase of the T2 signal of the white matter in 12 children, b) a bilateral, symmetric but not generalized abnormality in nine and c) asymmetric, focal or multifocal pathology in five. Useful information as to clinical entities and course was obtained from the combined clinical and radiological assessment. A precise nosological diagnosis could be made in six cases. The study showed that white matter abnormalities in children constitute a heterogeneous group of rare and 'anonymous' conditions, motivating collaborative studies for further clarification of background and management.
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PMID:Clinical characteristics of children with cerebral white matter abnormalities. 1070 Nov

Clinical, neurophysiological, neuroimaging and biochemical studies were performed in five boys with childhood and adolescent form of cerebral X-ALD, which is a very rare disease in developmental age. In all patients, rapidly progressive spasticity, ataxia and mental deterioration were found. Seizures occurred in four of them. Additionally, visual and hearing impairment were observed in four and three patients respectively. Adrenal insufficiency was also diagnosed in four cases. MR revealed extensive demyelination located mainly symmetrically in the parieto-occipital areas, in one patient in whom asymmetrical lesions in that region were found. All patients had abnormal visual, brainstem and somatosensory evoked potentials recording, reflecting the central demyelination occurring in X-ALD. The clinical diagnosis in every case was confirmed by the significantly elevated concentration of very long chain fatty acids (VLCFA) measured in plasma in comparison to normal values.
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PMID:Cerebral childhood and adolescent X-linked adrenoleukodystrophy. Clinical presentation, neurophysiological, neuroimaging and biochemical investigations. 1718 59

Polymicrogyria (PMG) is a brain malformation due to abnormal cortical organisation. It is a heterogeneous disorder associated with 22q11.2 deletion syndrome (also known as velocardiofacial (VCF) syndrome) amongst others. Since this association was first recognised in 1996, over 30 patients with PMG and 22q11.2 deletion have been described. In 22q11.2 deletion syndrome, PMG is mainly located in the perisylvian areas; it frequently has an asymmetrical presentation with a striking predisposition for the right hemisphere. Neurological features of perisylvian PMG include developmental delay/mental retardation, seizures, microcephaly, spasticity and oromotor dysfunction. Thus in children diagnosed with 22q11.2 deletion syndrome, a finding of PMG has important prognostic value. We present a seven-month old boy with microcephaly, short stature and developmental delay. A cerebral MRI showed slightly enlarged ventricles and symmetrical perisylvian polymicrogyria. A 22q11.2 deletion was revealed by array-based comparative genomic hybridization. Remarkably the boy had no other manifestations of VCF syndrome. Paediatricians, child neurologists and clinical geneticists should be aware that the presence of PMG (especially in the perisylvian areas) needs investigating for 22q11.2 deletion, even if other more common VCF syndrome features are absent.
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PMID:Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion. 2055 86


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