Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. EDS type V is characterised by hyperextensible skin but tissue fragility and joint hyperlaxity are mild. This form of EDS is very rare and has been described in only two families so far.
During occasional unique and/or stimulating circumstances, a person with EDS can sometimes remain animated, awake and alert, for brief or extended periods of time. EDS can affect the ability to function in family, social, occupational, or other settings. ... A number of tools for screening for EDS have been developed. One is the Epworth Sleepiness Scale which grades the results of a questionnaire. ...  Treatment Treatment of EDS relies on identifying and treating the underlying disorder which may cure the person from the EDS. Drugs like modafinil, Armodafinil, Xyrem (sodium oxybate) oral solution, have been approved as treatment for EDS symptoms in the U.S.
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To prevent spread of the disease, infected animals are separated from non-infected goats, or culled. References ^ a b c d Maclachlan, NJ; Dubovi, EJ, eds. (2010). ... Fenner's Veterinary Virology (5th ed.). Academic Press. pp. 294–295. ISBN 9780128011706 . ^ Stonos, N; Wootton, SK; Karrow, N (22 August 2014). ... PMID 25153344. ^ a b Smith, MC; Sherman, DM, eds. (2011). "Caprine arthritis encephalitis (CAE) and Maedi Visna (MV)". Goat medicine (2nd ed.). John Wiley & Sons. ISBN 9781119949527 . ^ a b Peacock, Christie (1996). ... Diseases of the goat (4th ed.). John Wiley & Sons. pp. 98–102. ISBN 9781119073529 .
Episodic dyscontrol syndrome Specialty Psychiatry Episodic dyscontrol syndrome, otherwise known as intermittent explosive disorder(IED). Episodic dyscontrol syndrome (EDS, or sometimes just dyscontrol), is a pattern of abnormal, episodic, and frequently violent and uncontrollable social behavior in the absence of significant provocation; it can result from limbic system diseases, disorders of the temporal lobe, or abuse of alcohol or other psychoactive substances. Episodic dyscontrol syndrome (EDS) is a clearly identified category in the Diagnostic and Statistical Manual of Mental Disorders (DSM IV). EDS may affect children or adults. Children are often considered to have epilepsy or a mental health problem. ... (March 2018) Treatment Treatment for EDS usually involves treating the underlying causative factor(s). This may involve psychotherapy, or medical treatment for diseases. EDS has been successfully controlled in clinical trials using prescribed medications, including Carbamazepine, Ethosuximide, and Propranolol. There have been few randomised controlled trials of treatment of EDS(Episodic dyscontrol syndrome)/IED(intermittent explosive disorder). ... Adolescents and young adults may experience educational and social consequences but also mental health problems, including parasuicide, if IED/EDS is undiagnosed in early childhood. Legal implications A diagnosis of EDS has been used as a defense in court for persons accused of committing violent crimes including murder. See also Intermittent explosive disorder References ^ McTague, A.; Appleton, R. (1 June 2010). ... Review of Clinical Psychiatry and the Law (Hardback) (Version 2 ed.).
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Nomenclature The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI; 225400) was at one time separated into EDS VIA (with lysyl hydroxylase deficiency) and EDS VIB (with normal lysyl hydroxylase activity). The designation EDS VIB was then thought to include the brittle cornea syndrome. Another entity formerly called EDS VIB is now known as the musculocontractural type of EDS (601776), caused by mutation in the CHST14 gene (608429). ... Cadle et al. (1985) studied 3 sisters with EDS VI phenotype but normal lysyl hydroxylase and the additional feature of macrocephaly. ... A distinct pattern of collagen crosslinks, indicative of decreased lysyl hydroxylation, could be identified in EDS VIA patients, but there was no clear correlation between collagen crosslink pattern and changes in the individual lysyl hydroxylase mRNAs of EDS VIB patients.
A number sign (#) is used with this entry because of evidence that brittle cornea syndrome-2 (BCS2) is caused by homozygous mutation in the PRDM5 gene (614161) on chromosome 4q27. Description Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). For a discussion of genetic heterogeneity of brittle cornea syndrome, see BCS1 (229200). Clinical Features Cameron (1993) described 11 patients with blue sclerae, limbus-to-limbus corneal thinning, hypermobile joints, and consanguineous parents.
Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.
Brittle cornea syndrome (BCS) is a genetic disease involving the connective tissue in the eyes, ears, joints, and skin. The symptoms of BCS typically involve thinning of the protective outer layer of the eye (cornea), which may lead to tearing or rupture after minor damage to the cornea. Other eye symptoms may include nearsightedness (myopia), a blueish tint in the white part of the eyes (blue sclera), and retinal detachment. Other symptoms may include hearing loss, abnormal positioning of the hip bones (hip dysplasia), and soft skin with abnormal scarring. There are 2 types of BCS. BCS type 1 is caused by changes (mutations) in the ZNF469 gene and BCS type 2 is caused by changes in the PRDM5 gene.
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