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)

Dementia, a syndrome of acquired intellectual deterioration, is an etiologically nonspecific condition that can be permanent or reversible. When evaluating demented patients, a careful exposure history will determine the possible role of drugs, metals, or toxins. Physical examination may reveal focal deficits in cases of intracranial mass lesions and spasticity or ataxia of the lower limbs if hydrocephalus is present. Coexistence of dementia and a peripheral neuropathy usually indicates the existence of a toxic or metabolic disorder. Depressed mood, sleep disturbance, anorexia, impotence, constipation, and psychomotor retardation indicate the presence of a depressive syndrome. Asterixis, myoclonus, and postural tremor are common in toxic-metabolic dementias, whereas resting tremor, choreoathetosis, or rigidity occur in progressive extrapyramidal disorder. EEG is focally abnormal in cases of cerebral mass lesions and shows generalized slowing in toxic-metabolic encephalopathies. CT will aid in the identification of hydrocephalus, subdural hematomas, and intracranial mass lesions. A thorough laboratory evaluation including complete blood count, erythrocyte sedimentation rate, electrolytes, blood urea nitrogen and blood sugar, liver and thyroid function tests, serum calcium and phosphorus levels, B12 and folate levels, serum copper and ceruloplasmin, VDRL, chest X-ray, electrocardiogram, and lumbar puncture may demonstrate treatable disorders that are adversely affecting intellectual function. Elderly individuals are particularly susceptible to the effects of toxic or metabolic disorders, and a mild dementia may be exaggerated by relatively minor fluctuations in metabolic status. Treatable causes of dementia should be sought in all demented patients.
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PMID:Treatable dementias. 635 58

We report on 4 boys (3 in one family) who have a remarkably constant syndrome of childhood-onset choreoathetosis with later spasticity, postnatal microcephaly, growth and mental retardation, apparent external ophthalmoplegia and varying degrees of deafness. The pedigrees are consistent with X-linked inheritance. The syndrome is compared and contrasted with others comprising basal ganglion dysfunction in childhood. It is concluded that clinically and genetically the condition is unique.
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PMID:A new X-linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness. 653 52

Lesch-Nyhan Syndrome (LNS) is a biochemical disorder characterized by a virtually complete deficiency of an enzyme of purine metabolism, hypoxanthineguanine phosphoribosyltransferase. This sex-linked recessive inborn error of metabolism is characterized clinically by: hyperuricaemia, excessive production of uric acid, certain characteristic neurological features including self-mutilation, choreoathetosis, spasticity and mental retardation. This paper will review the clinical, biochemical and genetic features of Lesch-Nyhan Syndrome and report a case in which repeated lip chewing resulted in destruction of the lower lip and the need for surgical intervention.
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PMID:Lesch-Nyhan syndrome: surgical treatment in a case with lip chewing. A case report. 693 76

A large Arab family affected with the rare X-linked Lesch-Nyhan syndrome is reported on. Two hemizygous boys, two and nine years of age, had the classical biochemical and clinical-neurological syndrome. The activity of erythrocyte hypoxanthine-guanine phosphoribosyltransferase (HGPRT) was below the detectable limit (greater than 0.1% of normal). They were mentally and physically retarded and exhibited spasticity and choreoathetosis; the older of the two also exhibited self-mutilation. The mother and three of her seven daughters, all clinically asymptomatic, were proven to be heterozygous for HGPRT deficiency, by demonstration of an increased rate of de novo purine synthesis in cultured skin fibroblasts. Erythrocyte HGPRT activity was normal in the three heterozygous daughters, but was significantly reduced in the mother. However, in all four heterozygotes, erythrocyte HGPRT/adenine phosphoribosyltransferase ratio was lower than in all other family members. All heterozygotes had blood uric acid levels within the normal range, although higher than in the normal women in the family. The ratio uric acid/creatinine concentration in the urine was significantly elevated in one of the heterozygotes, and in the upper normal limit in two others, indicating excessive purine production.
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PMID:Lesch-Nyhan syndrome in an Arab family. Detection and biochemical manifestation of heterozygosity. 732 17

Lesch-Nyhan syndrome is a rare X-linked disease characterized by over-production of uric acid and a central nervous system (CNS) disorder consisting of mental retardation, spasticity, choreoathetosis, and a compulsive form of self-mutilation. A deficiency in hypoxanthine-guanine phosphoribosyl transferase (HPRT) provides the underlying metabolic basis for this disease. A 12 month-old male baby who had orange crystals over the diapers since he was 3 months old was brought to our hospital due to developmental delay. Mental retardation and athetosis were also noted. Chemical analysis revealed hyperuricemia (uric acid 8.6 mg/dl). Urine routine showed microscopic hematuria and uric acid crystals. The activity of HPRT in erythrocyte lysates of parents were both within normal limits, but that of the patient was very low (0.0547 nm/min/mg protein, < 0.05% of control). His younger brother was born 2 months after this disorder diagnosed in this patient. The younger brother was noted to have uric acid crystals over the diapers when he was 40 days old and hyperuricemia (10.6 mg/dl) showed up later. He was also a case of Lesch-Nyhan syndrome since the activity of HPRT in erythrocyte lysates was also low (0.0327 nmol/min/mg protein, < 0.05% of control). Further studies, including carrier detection and deoxyribonucleic acid (DNA) analysis, could be helpful for genetic counseling. This syndrome is rare among Chinese, and this may be due to underdiagnosis.
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PMID:Lesch-Nyhan Syndrome: report on two brothers. 783 90

Hallervorden Spatz syndrome (HSS), described in 1.922, is a rare progressive disorder recessively inherited involving the basal ganglia. It is manifested clinically by mental deterioration, rigidity, choreoathetosis and spasticity evident during the first two decades of life. Increased concentration of iron in the globus pallidus and substantia nigra has been demonstrated convincingly. the objective of this paper is to describe two venezuelan children with this syndrome. Patient 1 is a 14-year-old boy with progressive impairment of language, mental deterioration and slowing of voluntary movements started at the age of 8 years. Patient 2 is a young girl first examined at 8 years of age because of psychomotor development delay, progressive impairment of gait, rigidity of the limbs, progressive dystonia and mental deterioration. Multiple test were performed, including metabolic studies, CT scan and magnetic resonance imaging in the brain. These two cases may lead us to think that besides the Huntington Disease, the HSS is also an entity to be taken into consideration in a young patient with movement disorder, mental deterioration and progressive course.
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PMID:[Hallervorden-Spatz syndrome in 2 Venezuelan patients]. 791 58

We studied a large pedigree with dominant spinocerebellar ataxia, genetically and clinically. At now, 27 members over 5 generations have been affected. Linkage study for the disease locus to D6S89 in a total of 44 individuals showed maximum lod scores of 3.99 at theta = 0.000. This result indicates that the disease locus of this pedigree locates near D6S89 on chromosome 6p (SCA 1). We studied 17 patients clinically. Mean age at onset was 37.7 +/- 8.6, and mean duration after onset was 11.3 +/- 6.8 years. Their clinical features were characterized by progressive ataxia, pyramidal involvement with hyperreflexia or spasticity, and mild posterior column involvement. Mild gaze nystagmus at early stage became unclear with the progress of illness. The frequent signs in the advanced stage were diffuse amyotropy, twitching of face or tongue, bulbar palsy, slow saccade, external ophthalmoparesis, mydriasis, coarse postural tremor, and dementia with emotional disturbance. There are so much clinical similarities between our pedigree and other SCA 1 pedigrees in the literature. Generally, SCA 1 shows hyperreflexia, spasticity, and terminal slow saccade. On the other hand, non-SCA 1 type OPCA is characterized by progressive hyporeflexia, slow eye movement from early stage, and frequent choreoathetosis. Gaze nystagmus, external ophthalmoparesis, amyotrophy, and spasticity are common in both SCA 1 and Machado-Joseph disease (MJD). However, they are more frequent in MJD than SCA 1. Moreover, extrapyramidal signs, such as dystonia, are rare is SCA 1. Based on these difference, SCA 1 could be clinically differentiated from other similar hereditary ataxias.
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PMID:[Spinocerebellar ataxia 1--clinical study of 17 patients in a large pedigree]. 836 44

Two sisters were presented, 16 years old and 12 years old, who showed similar clinical courses. They had had mental retardation since early childhood, and then ataxia began. They suffered from astatic and tonic seizures from early school age, which gradually evolved to intractable epilepsies. Spasticity progressed, and they deteriorated both physically and mentally. They revealed photo-sensitivity; convulsions were induced by the flickering of light. They were attacked by myoclonic seizures as well as choreoathetosis, and became bedridden by the latter part of the elementary school age. There were no fruitful results of any kind from the laboratory examinations for metabolic disorders. EEG showed that the epileptic seizure discharges were induced by photic stimulation; there were frequent 3-4 Hz diffuse spike-and-wave short bursts during waking and sleep periods. MRI findings of the elder sister at the age of 16 revealed remarkable diffuse brain atrophy. Gene analysis showed abnormally enlarged DNA fragments localized on the short arm of chromosome 12. This meant expanded CAG trinucleotide repeats. The younger sister died at the age of 12 years. Autopsy findings revealed degeneration of both dentatorubral and pallidoluysian pathways. There were especially remarkable gliosis and neuronal cell loss in the outer segment of globus pallidus, and moderate neuronal cell loss and typical grumose degeneration in the dentate nucleus. The diagnosis of juvenile-type hereditary dentatorubral-pallidoluysian atrophy was compatible with the pathologic findings. This diagnosis will be made possible before death through the understanding of the clinical symptoms and molecular genetics.
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PMID:[Sisters with early onset hereditary dentatorubral-pallidoluysian atrophy of childhood--DNA analysis and clinicopathological findings]. 853 13

Paroxysmal choreoathetosis/episodic ataxia is a heterogeneous neurological syndrome usually inherited in an autosomal dominant manner. Recently, the association of one form of episodic ataxia (defined by the presence of additional myokymia) with point mutations in the potassium channel gene KCNA1 was described. This gene locus on chromosome 12p (HGMW-approved symbol CSE) was excluded in a large pedigree with paroxysmal choreoathetosis and additional spasticity. Linkage to chromosome 1p where a cluster of related potassium channel genes is located, was demonstrated. Genotyping of 18 affected and 11 unaffected family members with 28 microsatellites over a region of 45 cM proved linkage with a lod score of 7.2 at a recombination fraction theta = 0 to D1S451/421/447/GGAT4C11. Crossing-over events in 9 patients and 4 unaffected offspring suggested a probable assignment of the gene to a region of 2 cM between D1S443 and D1S197.
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PMID:A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. 880 84

Movement disorders are a well-recognized feature of some patients with cerebral palsy and often require treatment. However, treatments have been symptomatic and empiric, and there have been few pharmacologic studies. The major movement disorders in cerebral palsy are dystonia and the hyperkinesias choreoathetosis and myoclonus. They may occur in combination, often accompanied by spasticity and sometimes by epilepsy. Some drugs are useful treatments for all of these problems, but others may improve one while worsening another. Pitfalls in management include not diagnosing metabolic/degenerative disorders, which may mimic cerebral palsy, or not recognizing reversible complications of cerebral palsy, which may exacerbate symptoms. This review attempts to summarize empiric drug use and recommendations for therapy, drug studies in extrapyramidal cerebral palsy, and prospects for new drugs or models for the problem. Many new pharmacologic agents are available for study in cerebral palsy. Better methods of detecting basal ganglia injury after perinatal injury in asymptomatic infants may allow early intervention in the biologic process of recovery and adaptation.
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PMID:Oral pharmacotherapy for the movement disorders of cerebral palsy. 895 57


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