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)

We have studied the clinical presentation and course of a chronic inflammatory disease occurring in childhood and observed in 30 patients. The first symptoms were generally present at birth, except in a few patients where they were first noticed in early infancy. All the patients had the association of three main symptoms: neurological, cutaneous and articular. The skin rash was the first symptom observed in all the patients and looked like a chronic non pruritic urticaria varying during the day. The articular manifestations involved knees, ankles and feet, elbows, wrists and hands unaffecting the other joints. They could be mild giving arthritis during flare-ups or severe with major radiological modifications affecting the epiphysis, metaphysis and growth cartilage. The neurological manifestations were characterized by a chronic meningitis and symptoms indicating meningeal irritation: headaches, seizures, spasticity of legs. Most patients had a cerebral atrophy and a low IQ. Sensory organ involvement occurred progressively during the follow-up: ocular inflammation with optic atrophy, deafness and hoarseness. Common morphological features characterized these patients with short stature, head enlargement, saddle back nose and short and thick extremities with clubbing of fingers. The course was that of a chronic inflammatory disease with numerous flare-ups associating fever, splenomegaly and adenomegaly. Except for a high level of eosinophils in blood, CSF and tissues, the biology was non specific and only exhibited features of inflammation. Except for two families, the disease was sporadic. A high frequency of prematurity with features resembling a foetal infection was observed but no proof of a possible causal virus has so far been found so that etiology remains unknown.
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PMID:A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. 348 35

In children valgus deformities of the ankle joint are usually due to neurological conditions (spina bifida, poliomyelitis, spasticity). The deformity is characterized by a shortened fibula, wedging of distal tibial epiphysis and valgus tilt of the talus. Other conditions producing similar deformity include congenital and acquired fibular pseudarthroses, multiple exostoses and some cases of tarsal synostosis. Early treatment of a progressive valgus in multiple exostoses is mandatory. The author describes a case of ankle valgus following an undiagnosed traumatic section of tibialis posterior tendon. After predictable failure of a Grice procedure, a persisting good correction was obtained by fibula lengthening combined with talus reposition and fixation on os calcis.
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PMID:[Valgus deformities of the ankle in children]. 358

Endemic cretinism has been classified into neurological and myxedematous types. Profound mental deficiency, deaf-mutism and cerebral diplegia are predominantly found in the former. The latter have been described as less mentally retarded but with severe growth retardation and myxedematous features. The pathogenesis of different clinical types of endemic cretinism is still unclear. Recently, a unifying hypothesis suggested that iodine deficiency, severe enough to cause maternal and fetal hypothyroxinemia, results in neurological defects in all cretins. We conducted the present study in northern Thailand to determine the validity of this hypothesis in another geographical area. The study consisted of a multidisciplinary survey on 112 endemic cretins aged 2-66 years in Nan. They were categorized clinically into three types of endemic cretins, neurological (n = 57), myxedematous (n = 19) and mixed form (n = 36). The subjects were generally short and the majority had severe mental retardation (mean intellectual quotient (I.Q.) 30.8 +/- 8.8), psychomotor defect and profound sensorineural hearing loss. The I.Q. score and proportion of cretins with sensorineural hearing loss and psychomotor defect were similar among the three types of cretins. The most frequent neurological abnormalities were spasticity, hyper-reflexia, the presence of primitive reflexes and gait disturbance. These abnormalities were distributed equally among the three types of endemic cretins. Delayed skeletal maturation and abnormal epiphysis were also present in all types of cretins. However, myxedematous cretins were shorter (P < 0.01), having more myxedematous features (P < 0.05 to P < 0.001) and less sexual maturation (P < 0.05). Thyroid volume was lower in cretins with hypothyroidism (P < 0.01). In conclusion, our findings support the hypothesis that neurological features are present in all types of cretins, and are the consequence of maternal and fetal hypothyroxinemia due to severe iodine deficiency. The clinical manifestations of the cretins were subsequently modified by the length and severity of postnatal iodine deficiency and hypothyroidism.
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PMID:Endemic cretinism in Thailand: a multidisciplinary survey. 936 97

The aim of the present study was to assess the influence of muscle spasms, systemic or lifestyle factors on bone mass and geometry of the femur and the tibia in people with long-standing spinal cord injury (SCI). Fifty-four motor complete SCI people with paralysis duration of between 5 and 50 years were included in the study. Spasticity was measured by means of the Ashworth scale. Distal epiphyses and mid shafts of the femur, tibia, and radius were measured by peripheral quantitative computed tomography. From the epiphyseal scans, trabecular and total bone mineral density (BMDtrab and BMDtot) were calculated, and from the shaft scans, cortical BMD (BMDcort), total and cortical cross-sectional area (CSAtot and CSAcort), and muscle cross-sectional areas (CSAmus) were determined. Personal characteristics, anthropometric, as well as life-style factors, were assessed by means of a questionnaire. A Spearman correlation matrix was produced with measured data. Correlation coefficients exceeding 0.3 were tested for significance by performing linear regression for parametric data and ANOVA for non-parametric data. Subjects with higher spasticity scores had significantly larger CSAmus in the upper and lower leg. Both spasticity and CSAmus were found to be significantly related to BMDtrab and BMDtot of the distal epiphysis of the femur and to CSAcort of the femoral shaft. In the lower leg, bone parameters of the tibia were found to be strongly related to corresponding bone parameters of the radius, which suggests a systemic origin. No significant relationships were found between bone parameters and any of the life-style factors. The extent of bone loss caused by disuse of the lower extremities in people with long-standing SCI is influenced by systemic factors. Additionally, spasticity has a positive effect on bone parameters of the femur.
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PMID:Assessment of anthropometric, systemic, and lifestyle factors influencing bone status in the legs of spinal cord injured individuals. 1513 65

Fitzsimmons syndrome is an infrequently described entity comprising slowly progressive spastic paraplegia, brachydactyly, and cone-shaped epiphyses, dysarthria, and low-normal intelligence. Five patients with this syndrome have been reported. The cause remains unknown. Here we describe a 16-year-old boy with Fitzsimmons syndrome. He was noted to toe-walk at age 18 months and spasticity progressed slowly into a spastic gait with contractures. He has mild dysarthria and hypernasal speech. Brachydactyly is notable but cannot be classified into one of the recognized types. A cone-shaped epiphysis was apparent on the only available childhood radiograph. He has moderate cognitive handicap and pervasive developmental delay. A detailed comparison of this patient with the earlier described cases is presented to further delineate the condition and increase awareness of this syndrome.
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PMID:Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment. 1976 Jun 57

This report is a case of slipped capital femoral epiphysis in a nonambulatory patient with spastic quadriplegic type of cerebral palsy. Such a case is unusual as no weight-bearing forces were acting on the hip; however, spasticity may have played a role. To the best of our knowledge no earlier cases have been reported in the literature.
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PMID:Slipped capital femoral epiphysis in a cerebral palsy patient: a case report. 2153 2

Slipped capital femoral epiphysis (SCFE) is a slippage of the femoral epiphysis (femoral head) on the femoral neck. Femoral epiphysis usually slips backward and inward because of body weight. This disorder mainly occurs during puberty. We report the very rare case of a child with cerebral palsy associated with spasticity of the limbs.
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PMID:[Slipped capital femoral epiphysis in a patient with cerebral palsy due to seizure]. 3101 90