Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The effectiveness of tetrabenazine in controlling choreic movement in Huntington's chorea has been confirmed in a long-term study. Side effects noted included postural hypotension, dysphagia and pneumonia. Careful supervision of patients taking this effective agent is urged.
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PMID:Tetrabenazine in the treatment of Huntington's chorea. 13

Degenerative diseases of the basal ganglia are commonly complicated by dysphagia. In 35 patients with Huntington's disease (HD), a hereditary neurodegenerative basal ganglia disease characterized by chorea, dementia, and emotional changes, an extensive battery of clinical and radiologic procedures helped to identify numerous abnormalities of deglutition. The results permitted the classification of our patients with HD into hyperkinetic (HD-h) or rigid-bradykinetic (HD-rb) groups. Although the two groups share multiple abnormalities, statistically significant intergroup differences were observed. Clinical assessment of the HD-h cohort (30 patients) demonstrated rapid lingual chorea, swallow incoordination, repetitive swallows, prolonged laryngeal elevation, inability to stop respiration, and frequent eructations. In the HD-rb group (five patients), frequently observed abnormalities included mandibular rigidity, slow lingual chorea, coughing on foods, and choking on liquids. Videofluoroscopic swallowing studies (VFSS) using a variety of barium-impregnated foods and liquids confirmed the abnormalities noted on the clinical assessment. Respiratory and laryngeal chorea, pharyngeal space retention, and aspiration were also identified. Numerous compensatory techniques introduced during videofluoroscopy benefited all patients.
Dysphagia 1992
PMID:Dysphagia in Huntington's disease: a 16-year retrospective. 153 61

Seventeen cases of Huntington's chorea have been studied on a clinical and anatomopathological basis. Fourteen genealogical trees have been established. Clinically, involuntary movements of choreic type and an impairment of higher brain functions are constant symptoms. Gait disorders, dysarthria and a tendinous hyperreflexia are usual (present in 95, 95 and 80% of cases). Anorexia, muscular hypotony and dysphagia are also frequent (present in 75, 60 and 50% of cases). The neuropathological examination shows macroscopically a neostriatal atrophy in 90% of cases and a cerebral cortical atrophy in 75%. Microscopically, a neuronal loss--mainly in small cells (Golgi II)--is evident in the neostriatum of all the cases. The pallidum is also affected, but to a lesser degree. A cortical cell loss is present in 90% of the cases, mainly in layers III, IV, V and sometimes also in layer VI of frontal and parietal lobes. In 75% of the cases, a cortical gliosis is noticed, mostly at the level of the frontal pole.
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PMID:[Huntington chorea. Anatomoclinical and genetic study of 17 cases]. 214 46

Although not the most obvious symptom of Huntington's disease (HD), difficulty swallowing, or dysphagia, is a common symptom and may be associated with fatal complications. Management of dysphagia requires an understanding of the process of normal food ingestion and how this process is impaired in HD. This article describes HD and how it interferes with food intake. An effective nursing approach to the management of dysphagia is presented.
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PMID:Dysphagia in Huntington's disease. 252 55

Dysphagia is a common complication of Huntington's disease (HD) that is frequently responsible for the potentially lethal respiratory events of aspiration or asphyxiation. Twelve patients who had HD and a history of dysphagia underwent extensive multidisciplinary clinical examinations. All of the patients, regardless of the clinical severity of their disease, demonstrated impaired control of many voluntary aspects of food intake that affected swallowing efficiency. Abnormalities of the rate of food consumption, mastication, bolus transfer, respiration, and swallow initiation seem to be responsible for most dysphagic symptoms in HD. Less prominent abnormalities of the pharyngoesophageal phases of ingestion were also noted. Dysphagia therapy was initiated in 11 of 12 patients. All of the patients' conditions improved; a majority (8/11) of the patients returned to an unrestricted diet. This improvement persisted for as long as three years, while other clinical features of HD intensified.
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PMID:Dysphagia in Huntington's disease. 315 11

Huntington's disease is a dominantly inherited progressive autosomal disease that affects the basal ganglia. Symptoms appear later in life and manifest as progressive mental deterioration and involuntary choreiform movements. Patients with Huntington's disease develop a progressive but variable dementia. Dysphagia, the most significant related motor symptom, hinders nutrition intake and places the patient at risk for aspiration. The combination of involuntary choreoathetoid movements, depression, and apathy leads to cachexia. Factors of considerable concern to the anesthesiologist who treats patients with Huntington's disease may include how to treat frail elderly people incapable of cooperation, how to treat patients suffering from malnourishment, and how to treat patients with an increased risk for aspiration or exaggerated responses to sodium thiopental and succinylcholine. The successful anesthetic management of a 65-yr-old woman with Huntington's disease who presented for full-mouth extractions is described.
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PMID:Huntington's disease: review and anesthetic case management. 1048 87

The aim of this study is to analyze dysphagic symptoms of a patient with Huntington's disease (HD) who had having difficulty in swallowing. The patient was a 66-year-old female with HD. Inspection of self-feeding at bedside and videofluorographic swallowing assessment were performed. The features at self-feeding were the tendency of rapid eating, inability for smooth transportation of food to oral cavity, weak lip closure, which resulted in falling of food and eating it again. The videofluorography indicated clumsy tongue movement and postural instability by chorea which caused discoordination between oral and pharyngeal stage. Those ended in spill of liquid to the pharynx and retention of bolus in the oral cavity and vallecula, and aspiration did not occur. Pudding was carefully chewed because of the patient's alertness to the examination. The cognitive disturbance and choreic movement caused dysphagia at the preparatory and oral stages, and chorea also produced the discoordication between the oral and pharyngeal stage. The change of the shape of cups and stable posture were advised to lessen the chance of her aspiration.
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PMID:Oropharyngeal dysphagia in a case of Huntington's disease. 1512 Dec 28

Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disease that presents in the fifth or sixth decade with dysphagia, ptosis and proximal limb weakness. OPMD is caused by the abnormal expansion of a polyalanine tract within the coding region of polyA binding protein nuclear 1 (PABPN1). The resultant mutant PABPN1 forms aggregates within the nuclei of skeletal muscle fibres. We have previously described a transgenic mouse model of OPMD that recapitulates the human disease and develops progressive muscle weakness accompanied by the formation of aggregates in skeletal muscle nuclei. The chemical chaperone trehalose has been used effectively to alleviate symptoms in a mouse model of Huntington's disease and is thought to elicit its effect by binding and stabilizing partially folded polyglutamine proteins and inhibiting the formation of aggregates. Here, we show that trehalose reduces aggregate formation and toxicity of mutant PABPN1 in cell models. Furthermore, oral administration of trehalose attenuated muscle weakness, reduced aggregate formation and decreased the number of TUNEL-labelled nuclei in skeletal muscle in an OPMD transgenic mouse model. Thus, anti-aggregation therapy may prove effective in the treatment of human OPMD.
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PMID:Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. 1631 Dec 54

Although available treatments for Huntington's disease (HD) are imperfect, thoughtful application can positively impact quality of life. Dopamine antagonists can provide control of the troublesome hyperkinetic movements. These agents can also diminish the frequency of hallucinations and delusions when symptoms of psychosis occur. Classical neuroleptics have the widest utilization, although atypical antipsychotics are being increasingly used. Suppression of choreiform movements has also been reported with amantadine and tetrabenazine, which is not currently approved in the United States but under investigation. Alteration in mood can be successfully managed with a variety of antidepressant medications. Superior tolerability and value in the management of a variety of behavioral disturbances have lead to extensive use of serotonin reuptake inhibitors. Modest disturbance of mood can sometimes be addressed with anticonvulsant medications. Considered a manifestation of advanced disease, dementia is less commonly addressed therapeutically. However, gathering experience suggests improved cognitive function can occur with cholinesterase inhibitor therapy. Frequently overlooked is the value of rehabilitation services in the management of diverse symptoms. Although the value of a dysphagia evaluation is apparent, the benefit to be derived from physical and occupational therapy involvement cannot be overstated. Current therapeutic trials will undoubtedly provide additional therapies to moderate symptoms, but once the mechanism(s) of selective striatal projection neuron degeneration are delineated, a revolution in the management of HD will occur.
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PMID:Huntington's Disease. 1656 82

Neuroferritinopathy is a progressive potentially treatable adult-onset movement disorder caused by mutations in the ferritin light chain gene (FTL1). Features overlap with common extrapyramidal disorders: idiopathic torsion dystonia, idiopathic Parkinson's disease and Huntington's disease, but the phenotype and natural history have not been defined. We studied a genetically homogeneous group of 41 subjects with the 460InsA mutation in FTL1, documenting the presentation, clinical course, biochemistry and neuroimaging. The mean age of onset was 39.4 years (SD = 13.3, range 13-63), beginning with chorea in 50%, focal lower limb dystonia in 42.5% and parkinsonism in 7.5%. The majority reported a family history of a movement disorder often misdiagnosed as Huntington's disease. The disease progressed relentlessly, becoming generalized over a 5-10 year period, eventually leading to aphonia, dysphagia and severe motor disability with subcortical/frontal cognitive dysfunction as a late feature. A characteristic action-specific facial dystonia was common (65%), and in 63% there was asymmetry throughout the disease course. Serum ferritin levels were low in the majority of males and post-menopausal females, but within normal limits for pre-menopausal females. MR brain imaging was abnormal on all affected individuals and one presymptomatic carrier. In conclusion, isolated parkinsonism is unusual in neuroferritinopathy, and unlike Huntington's disease, cognitive changes are absent or subtle in the early stages. Depressed serum ferritin is common and provides a useful screening test in routine practice, and gradient echo brain MRI will identify all symptomatic cases.
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PMID:Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. 1885 24


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