Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Olivopontocerebellar atrophy is a hereditary disorder that has variable clinical manifestations. Five types have been described, as well as a sixth that contains sporadic cases. This report describes a family with three affected members who demonstrate a composite of types III and V. Their features include progressive spasticity, ataxia, dementia, visual loss with retinal pigmentation, dysarthria, ophthalmoplegia, and chorea. This family might represent an additional category of the disease. In the two family members who developed chorea, baclofen resulted in marked improvement with abolition of the choreiform movements. Response has been sustained for several years in the mother and for eight months in the daughter. Neither has experienced any return of chorea while receiving treatment. When attempts were made to discontinue baclofen, choreiform movements returned promptly and with their original severity. Baclofen, a gamma-aminobutyric acid analogue, may be useful in the treatment of other forms of chorea as well.
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PMID:Olivopontocerebellar atrophy with dementia, blindness, and chorea. Response to baclofen. 402 7

Three cases of Huntington's chorea with onset before age 10 years are reported. Each child presented with rigidity and indistinct speech, and there was progressive deterioration. Necropsy examination confirmed the diagnosis in 2 of them. A review of reports showed a further 43 cases with onset before 10 years. The rigid variety of disease was seen most often, but isolated chorea and isolated progressive mental deterioration occurred. Fits were common but occurred late and were often difficult to control. Dysarthria was common and occurred early. The duration of illness was very variable and ranged from 2 to 38 years. Symptoms can occur in a child before appearing in the affected parent who is most likely to be the father. Affected siblings develop the disease early, often in the first decade. Siblings of patients with onset before age 10 years who are unaffected by age 25 years had only an 8% chance of developing the disease, compared with a 50% chance in unselected at risk individuals of the same age.
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PMID:Huntington's chorea. Report of 3 cases and review of the literature. 646 Dec 98

To document possible changing characteristics of Sydenham chorea, we reviewed records of 240 patients with this diagnosis who were seen between 1951 and 1976. A dramatic progressive decline in the number of cases was observed. The syndrome occurred mainly in childhood. Female predominance was apparent only after the 10. There was a high femilial incidence for both chorea and rheumatic fever. Most patients had generalized chorea, and fewer than 20% had hemichorea. Dysarthria, probably of extrapyramidal origin, was frequent but neurologic abnormalities other than diffuse encephalopathy were rare. One-third of the patients had coexisting heart disease. Repeat attacks of Sydenham chorea occurred, but the recurrence rate was much less than noted in previous studies.
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PMID:Sydenham chorea: an update. 718 38

Eleven children with Sydenham's chorea (8 girls and 3 boys, mean age = 8.4 +/- 2.2 [SD] years) underwent comprehensive physical, neuropsychologic, and psychiatric examination. The chorea was manifested as dysarthria, gait disturbances, and frequent adventitious movements of the face, neck, trunk, and extremities. Antineuronal antibodies were present in 10 of 11 children. All children exhibited concomitant psychologic dysfunction, specifically obsessive-compulsive symptomatology, increased emotional lability, motoric hyperactivity, irritability, distractibility, and age-regressed behavior. Obsessive-compulsive symptoms were observed in 9 (82%) children, 4 of whom met diagnostic criteria for obsessive-compulsive disorder. These behavioral symptoms began several days to weeks before the chorea was observed, and they waxed and waned in severity along with the motoric abnormalities. These results suggest that psychologic, particularly obsessive-compulsive, symptoms are accompanying manifestations of Sydenham's chorea which may require medical attention.
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PMID:Sydenham's chorea: physical and psychological symptoms of St Vitus dance. 846 54

A large Dutch family of 88 members, running through five generations, is described with benign hereditary chorea of early onset. The clinical presentation was heterogeneous. The chorea manifested in late infancy or childhood, interfered with writing, was non-disabling, stable or even improved in adulthood in most cases, but was slowly progressive with gait impairment in some. There was mild dysarthria and normal intelligence. EEG brain CT-scanning and MRI were normal. Huntington's disease was excluded by analysis of the I T 15 gene, which showed a normal number of the CAG trinucleotide repeats in two patients. It is concluded that benign hereditary chorea of early onset is an entity different from Huntington's disease and that in cases of early onset chorea the diagnostic accuracy is markedly improved by DNA testing.
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PMID:A Dutch family with benign hereditary chorea of early onset: differentiation from Huntington's disease. 883 92

Levofloxacin-induced-neurological adverse events such as convulsion, involuntary movement (tremor, myoclonus and chorea-like) and visual hallucination in two elderly patients are reported. A 67-year-old man with minor alcoholism and a past-history of gastrectomy and cholecystectomy was given 300 mg/day of oral levofloxacin and fulfenamic acid for an upper respiratory infection. On the 4th day, he reported gradual exacerbation of hand tremor which resembled chorea-like involuntary movement and gait disturbance. He also experienced visual hallucinations. On the 7th day, he suffered generalized convulsions and was admitted. Serum concentration of levofloxacin at this time (3 hours after last administration of a 100 mg tablet of levofloxacin) was 3.6 micrograms/ml. Cessation of the agents promoted complete recovery of these neurological adverse effects within a week. Another 85-year-old man with chronic bronchitis and slight renal impairment received long term administration of 200 mg/day of levofloxacin. On the 68th day of administration, gradual exacerbation of gait disturbance, dysarthria and chorea-like involuntary movement occurred. On the day of admission, 76 days after the start of administration, the serum level of levofloxacin was 2.55 micrograms/ml and that of spinal fluid was 1.12 micrograms/ml (3 hours after the last administration of a 100 mg tablet of levofloxacin). Cessation of the agents promoted complete recovery of these neurological adverse effects within the next two weeks. Both patients had no apparent neurological disorders except age-related brain atrophy. Age-related renal and brain impairment might have contributed to the neurological adverse effects of levofloxacin.
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PMID:[Levofloxacin-induced neurological adverse effects such as convulsion, involuntary movement (tremor, myoclonus and chorea like), visual hallucination in two elderly patients]. 1038 31

There is nothing more discouraging than for a patient to be given a specific diagnosis, then to be told that there is nothing that can be done. Physicians are equally disheartened to see exponential progress being made in the understanding of the pathophysiology of a complex disorder but few direct benefits resulting for their patients. Over the past 5 years, molecular genetic research has completely revolutionized the way in which the progressive cerebellar ataxias are classified and diagnosed, but it has yet to produce effective gene-based, neuroprotective, or neurorestorative therapies. The treatment of cerebellar ataxia remains primarily a neurorehabilitation challenge, employing physical, occupational, speech, and swallowing therapy; adaptive equipment; driver safety training; and nutritional counseling. Modest additional gains are seen with the use of medications that can improve imbalance, incoordination, or dysarthria (amantadine, buspirone, acetazolamide); cerebellar tremor (clonazepam, propranolol); and cerebellar or central vestibular nystagmus (gabapentin, baclofen, clonazepam). Many of the progressive cerebellar syndromes have associated features involving other neurologic systems (eg, spasticity, dystonia or rigidity, resting or rubral tremor, chorea, motor unit weakness or fatigue, autonomic dysfunction, peripheral or posterior column sensory loss, neuropathic pain or cramping, double vision, vision and hearing loss, dementia, and bowel, bladder, and sexual dysfunction), which can impede the treatment of the ataxic symptoms or can worsen with the use of certain drugs. Treatment of the associated features themselves may in turn worsen the ataxia either directly (as side effects of medication) or indirectly (eg, relaxation of lower limb spasticity that was acting as a stabilizer for an ataxic gait). Secondary complications of progressive ataxia can include deconditioning or immobility, weight loss or gain, skin breakdown, recurrent pulmonary and urinary tract infections, aspiration, occult respiratory failure, and obstructive sleep apnea, all of which can be life threatening. Depression in the patient and family members is common. Although no cures exist for most of the causes of cerebellar ataxia and there are as yet no proven ways to protect neurons from premature cell death or to restore neuronal populations that have been lost, symptomatic treatment can greatly improve the quality of life of these patients and prevent complications that could hasten death. Supportive interventions should always be offered-- education about the disease itself, genetic counseling, individual and family counseling, referral to support groups and advocacy groups, and guidance to online resources. Misinformation, fear, depression, hopelessness, isolation, and financial and interpersonal stress can often cause more harm to the patient and caregiver than the ataxia itself.
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PMID:Cerebellar Ataxia. 1109 49

Acanthocytosis occurs because of ultrastructural abnormalities of the erythrocyte membranous skeleton resulting in reduced membrane fluidity. At least three hereditary neurological conditions are associated with it, although as yet the pathogenesis of the neurological features is unknown. In abetalipoproteinaemia, an autosomal recessive condition, vitamin E deficiency results in a progressive spinocerebellar syndrome associated with peripheral neuropathy and retinitis pigmentosa. Neuroacanthocytosis is also probably an autosomal recessive condition and is characterised by chorea, orofaciolingual dyskinesia, dysarthria, areflexia, seizures and dementia. McLeod syndrome is an X-linked recessive disorder usually presenting in males as a benign myopathy with areflexia, in association with a particular abnormality of expression of Kell blood group antigens. However, occasionally the neurological features are more severe and indistinguishable from those of neuroacanthocytosis. Recent advances in molecular genetics may assist better understanding of the disease mechanisms and the search for more effective treatments.
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PMID:Acanthocytosis and neurological disorders. 1128 40

We report a 28-year-old woman with spinocerebellar ataxia type 8 (SCA 8). This patient began to exhibit dysarthria at the age of 19. At the age of 25, she fell and hit her head while drunk and then a neurosurgeon found that her cerebellum was atrophic on cranial CT and MRI. Neurological examination on admission to our hospital revealed ataxic speech, limb ataxia and mild hyperreflexia without Babinski's sign. Cranial MRI showed only mild atrophy of the cerebellar hemispheres and vermis. Based on the results of genetic analysis, which showed expanded CTG repeats[(CTA) 13 (CTG) 5 (CCG) 4 (CTG) 124] on the SCA 8 locus at 13q21, she was diagnosed as having SCA 8. As clinical signs of SCA 8, Koob et al. reported limb spasticity and diminished vibration perception including cerebellar ataxia. Furthermore, Hirose et al. and Satoh et al. reported cases showing involuntary movements such as myoclonus or chorea including cerebellar ataxia. Our case and Ikeda's cases presented a pure cerebellar phenotype. We think that SCA 8 exhibits clinical heterogeneity. On the other hand, Stevanin et al. and Worth et al. expressed doubt as to whether the SCA 8 locus at 13q21 is the gene actually responsible for autosomal dominant cerebellar ataxia (ADCA). We conclude that it is necessary to accumulate additional case reports, and to further investigate the relationship between the clinical findings and the results of genetic analysis in order to determine whether or not the SCA 8 locus at 13q21 is the genetic basis for ADCA.
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PMID:[A familial case of spinocerebellar ataxia type 8 (SCA 8)--its clinical findings and an issue about the genetic basis]. 1133 93

The term acanthocytosis is derived from the Greek for "thorn" and is used to describe a peculiar spiky appearance of erythrocytes. Acanthocytosis is found to be associated with at least three hereditary neurological disorders that are generally referred to as neuroacanthocytosis. Abetalipoproteinaemia is an autosomal recessive condition, characterised by absence of serum apolipoprotein B containing lipoproteins leading to fat intolerance and fat-soluble vitamin deficiency. This results in a progressive spinocerebellar ataxia with peripheral neuropathy and retinitis pigmentosa. Chorea-acanthocytosis is also an autosomal recessive condition and is characterised by chorea, orofaciolingual dyskinesia, dysphagia, dysarthria, areflexia, seizures and dementia. Some of its features, including choreic movements, peripheral neuropathy with areflexia, elevated serum creatine kinase levels and myopathy are shared by another form of neuroacanthocytosis, McLeod syndrome. Patients affected by this X-linked disorder also show abnormal expression of Kell blood group antigens and a permanent haemolytic state. In addition to these cases, acanthocytosis is occasionally associated with other neurological disorders, such as Hallervorden-Spatz disease. For each of the neuroacanthocytosis syndromes we review the main clinical features and their molecular bases. The recent molecular genetics findings are the first step towards the understanding of the pathogenetic mechanisms and eventually the search for effective treatments.
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PMID:Clinical features and molecular bases of neuroacanthocytosis. 1218 48


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