Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0085632 (apathy)
 4,089 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myotonic dystrophy (m.d.) is an autosomal dominant multisystem disorder involving muscles, brain, heart, eye, endocrine system, alimentary and respiratory systems. M.d. is the most frequent cause of muscle dystrophy. Unstable CTG trinucleotide repeat at 3' untranslated end of the myotonic protein kinase gene on chromosome 19q 13.3 is the molecular basis of the disease. Normal length of CTG trinucleotide repeat is 5-40. Molecular mechanism of the myotonic dystrophy is discussed. Cataract, heart dysfunction, endocrine organs dysfunction, gallbladder stones, impotence are characteristic changes in patient with m.d. Apathy, drowsiness, sometimes dementia point to central nervous system involvement. Clinical course, correlation between CTG expansion and clinical manifestation are described. Nowadays progress in molecular genetic allows to make the diagnosis by DNA examination. Prenatal diagnosis is also possible.
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PMID:[Current problems in myotonic dystrophy]. 986 18

The authors describe a case of a 53 years old man with myotonic dystrophy. Based on characteristic clinical symptoms and EMG results the diagnosis was established and proved on DNA examination. Myotonic dystrophy gene analysis showed on 3' untranslated region one hundred and fifty CTG triplet repeats. The accessory examinations revealed: cataract arrhythmias, gallbladder stones, impotence, cerebral atrophy on neuroimaging (CT and MRI). Apathy, somnolence, concentration troubles were present. Pedigree of the presented patient and possibility of spontaneous mutation are discussed.
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PMID:[A case of myotonic dystrophy proved by DNA analysis]. 1046 39

A randomly selected sample of 145 couples were seen at the time of a vasectomy request and a year or 18 months later, regardless of whether the vasectomy had been performed, to assess the quality of marriage before and after vasectomy. The sample was seen by 10 different doctors and studied in a seminar at the Cassel Hospital, Ham (UK). All doctors had had training in dealing with psychosexual problems. As part of each interview, the marital pattern was assessed using the following scale: 1) joint, warm, reciprocal, rewarding, showing loving concern; 2) fair, strains but a bearable modest success; and 3) real strains, contained but with difficulty; 4) major strains for both and marital war or major apathy; and 5) impending disaster (breakdown, illness, break up, divorce, or other cause). Using this scale, it became apparent that the majority of marriages improved in quality following vasectomy. This was the case in all age groups. It also appeared that the majority of requests came from successful marriages (score 1 and 2), in some of which strains apparent before vasectomy were not observed afterwards. 90% of the youngest age group had only minor strains whereas in the oldest group 56% had minor strains and 44% major difficulties in the marital relationship. The 94 successful marriages showing only minor strain hoped that vasectomy would prevent further pregnancies and would remove the need for contraception. They felt that they had reached the limit of parenthood and must have absolute protection against pregnancy. Following vasectomy, these marriages improved. Minor sexual problems disappeared, and tensions were eased. The exceptions were couples who had colluded; 3 couples were about to separate and hid their problems. 2 couples hid the husband's history of previous depressive illness. Both the men became severely depressed afterwards. The 37 marriages showing difficulties had also hoped that vasectomy would prevent further pregnancies and the need for contraception. Many also believed that it would improve their sex life as well. Others saw vasectomy as part of the in fighting in marital warfare. Those engaged in longstanding marital warfare remained unchanged as did those with severe sexual difficulties, especially when the husband had believed his wife's frigidity would be improved. Lesser degrees of sexual difficulty seemed to improve especially when these were based on such extreme fears of pregnancy that impotence or frigidity had resulted.
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PMID:The quality of marriage before and after vasectomy. 1226 16

Parkinson's disease is associated with classical Parkinsonian features that respond to dopaminergic therapy. Neuropsychiatric sequelae include dementia, major depression, dysthymia, anxiety disorders, sleep disorders, and sexual disorders. Panic attacks are particularly common. With treatment, visual hallucinations, paranoid delusions, mania, or delirium may evolve. Psychosis is a key factor in nursing home placement, and depression is the most significant predictor of quality of life. Clozapine may be the safest treatment for psychotic features, but more research is needed to establish the efficacy of antidepressant treatments. Dementia with Lewy bodies, the second most common dementia in the elderly, may present in association with systematized delusions, depression, or RBD. Early evidence suggests the utility of rivastigmine, donepezil, low-dose olanzapine, and quetiapine in treating DLB. Parkinson-plus syndromes generally lack a good response to dopaminergic treatment and evidence additional features, including dysautonomia, cerebellar and pontine features, eye signs, and other movement disorders. MSA is associated with dysautonomia and RBD. SND (MSA-P) is associated with frontal cognitive impairments, but dementia, psychosis, and mood disorders have not been strikingly apparent unless additional pathological findings are present. In SDS (MSA-A), impotence is almost ubiquitous; urinary incontinence is frequent; depression is occasional, and sleep apnea should be treated to avoid sudden death during sleep. OPCA neuropsychiatric correlates await further definition. Progressive supranuclear palsy neuropsychiatric features include apathy, subcortical dementia, pathological emotionality, mild depression and anxiety, and lack of appreciable response to donepezil. CBD usually is recognized by early frontal dementia with ideomotor apraxia, often in the right upper extremity, attended later by poorly responsive unilateral Parkinsonism, with additional signs including cortical reflex myoclonus, limb dystonia, alien limb, oculomotor apraxia when asked to look horizontally, depression, personality changes, and, occasionally, Kluver-Bucy syndrome. The neuropsychiatry of FTDP-17 involves apraxia, executive impairment, personality changes, hyperorality, and occasional psychosis. Future research in these Parkinsonian disorders should target the characterization of neuropsychiatric sequelae and their treatment.
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PMID:The neuropsychiatry of Parkinson's disease and related disorders. 1555 Feb 93