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

A woman with mania who had been treated with lithium carbonate since 69 years of age presented mild tremulousness of both hands at the age of 76 years. She subsequently developed dysphagia, dysarthria, unsteady gait and progressive deterioration of the higher cortical function over 1.5 months. Her tremulousness deteriorated until it resembled myoclonus. EEG showed periodic sharp wave complexes appearing predominantly over the bilateral parieto-occipital areas. Although the EEG abnormality was not identical with that usually observed in the fully developed stage of Creutzfeldt-Jakob disease (CJD), it was reminiscent of that seen in the early stage of CJD. Thus, her clinical symptoms and signs were considered to resemble those of CJD. The plasma concentration of lithium, however, was found to be over the therapeutic range. Reduction of the dose of lithium carbonate almost completely resolved her symptoms within 3 weeks. Consequently, her clinical condition was considered lithium intoxication. Antidepressant and bismuth as well as lithium have been reported to induce a Creutzfeldt-Jakob like syndrome. Awareness of drug-induced Creutzfeldt-Jakob like syndrome is clinically important because of its excellent prognosis as opposed to the ominous prognosis of CJD.
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PMID:[Creutzfeldt-Jakob like syndrome due to lithium intoxication--a case report]. 924 46

Late-onset Tay-Sachs (LOTS) disease is a chronic, progressive, lysosomal storage disorder caused by a partial deficiency of beta-hexosaminidase A (HEXA) activity. Deficient levels of HEXA result in the intracellular accumulation of GM2-ganglioside, resulting in toxicity to nerve cells. Clinical manifestations primarily involve the central nervous system (CNS) and lower motor neurons, and include ataxia, weakness, spasticity, dysarthria, dysphagia, dystonia, seizures, psychosis, mania, depression, and cognitive decline. The prevalence of peripheral nervous system (PNS) involvement in LOTS has not been well documented, but it has traditionally been thought to be very low. We examined a cohort of 30 patients with LOTS who underwent clinical and electrophysiologic examination, and found evidence of a predominantly axon loss polyneuropathy affecting distal nerve segments in the lower and upper extremities in eight patients (27%).
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PMID:Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients. 1864 77

The development of extrapyramidal syndrome characterised by rigidity, bradykinesia, dysphagia and dysarthria in a male individual with four distinct episodes of (mania like) behavioural disturbances with fairly good remission in a time frame of five years, in a male individual, was suspected to develop the neurological manifestations of Wilson's disease and was investigated. In the absence of Kayser-Fleischer ring by slit-lamp examination and with normal copper and ceruloplasmin serum levels, the diagnosis was possible because of the positive findings of the magnetic resonance imaging (MRI) studies and increased 24 hours urinary copper levels with the penicillamine challenge test. The findings and its implications are highlighted and discussed.
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PMID:Wilson's disease--a rare psychiatric presentation. 2011 50

Asenapine sublingual is a novel atypical antipsychotic approved in August 2009 for the acute treatment of schizophrenia, as well as for manic or mixed episodes as part of adult bipolar I disorder. Asenapine's in vitro profile is similar to other atypical antipsychotic agents insofar as there is higher affinity for serotonin 5-HT(2A) versus dopamine D(2) receptors. Asenapine exhibits a unique effect on monoamine, histamine and muscarinic receptor affinities, as well as effects on NMDA and AMPA receptors. This pharmacodynamic signature may mediate its symptom relief in positive, negative and mood symptoms, as well as conferring upon this agent an improved tolerability and safety profile when compared with some atypical agents. Asenapine has a relatively low propensity for changes in metabolic parameters, body composition, sedation/somnolence and extrapyramidal side effects, and is not associated with prolactin elevation or clinically significant electrocardiographic changes. Asenapine is available only in sublingual formulation, which has advantages (e.g., patient acceptance, compliance, difficulty swallowing) as well as disadvantages (i.e., patients are encouraged not to eat or drink within 10 min of administration). Its efficacy in mania is unequivocally established as is the sustaining of its acute antimanic effect. Its antidepressant and recurrence prevention effects in bipolar disorder are under investigation, as is its possible role in major depressive disorder.
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PMID:Pharmacology and efficacy of asenapine for manic and mixed states in adults with bipolar disorder. 2042 Apr 86