User:Mr. Ibrahem/Huntington's disease
| Huntington's disease | |
|---|---|
| Other names | Huntington's chorea, Saint Vitus' dance[1] |
 | |
| An edited microscopic image of medium spiny neurons (yellow) with nuclear inclusions (orange), which occur as part of the disease process, image width 360 µm | |
| Specialty | Neurology |
| Symptoms | Problems with mood, mental abilities, coordination, jerky body movements[2][3] |
| Complications | Pneumonia, heart disease, physical injury from falls, suicide[4] |
| Usual onset | 30–50 years old[5] |
| Duration | Long term[5] |
| Causes | Genetic (inherited or new mutation)[5] |
| Diagnostic method | Genetic testing[6] |
| Differential diagnosis | Sydenham's chorea, benign hereditary chorea, lupus, paraneoplastic syndrome, Wilson's disease[7] |
| Treatment | Supportive care[3] |
| Medication | Tetrabenazine[4] |
| Prognosis | 15–20 years from diagnosis[5] |
| Frequency | 4–15 in 100,000 (European descent)[2] |
Huntington's disease (HD), also known as Huntington's chorea, is an inherited disorder that results in the death of brain cells.[5] The earliest symptoms are often subtle problems with mood or mental abilities.[2] A general lack of coordination and an unsteady gait often follow.[3] As the disease advances, uncoordinated, jerky body movements become more apparent.[2] Physical abilities gradually worsen until coordinated movement becomes difficult and the person is unable to talk.[2][3] Mental abilities generally decline into dementia.[4] The specific symptoms vary somewhat between people.[2] Symptoms usually begin between 30 and 50 years of age but can start at any age.[5][4] The disease may develop earlier in life in each successive generation.[2] About eight percent of cases start before the age of 20 years, which is known as juvenile HD,[8] they typically present with symptoms more like Parkinson's disease.[4] People with HD often underestimate the degree of their problems.[2]
HD is typically inherited, although up to 10% of cases are due to a new mutation.[2] The disease is caused by an autosomal dominant mutation in either of an individual's two copies of a gene called huntingtin.[5] This means a child of an affected person typically has a 50% chance of inheriting the disease.[5] The huntingtin gene provides the genetic information for a protein that is also called huntingtin.[2] Expansion of CAG (cytosine-adenine-guanine) triplet repeats in the gene coding for the huntingtin protein results in an abnormal protein, which gradually damages cells in the brain through mechanisms that are not yet fully understood.[5] Diagnosis is by genetic testing, which can be carried out at any time, regardless of whether or not symptoms are present.[6] This fact raises several ethical debates: the age at which an individual is considered mature enough to choose testing; whether parents have the right to have their children tested; and managing confidentiality and disclosure of test results.[3]
There is no cure for HD.[5] Full-time care is required in the later stages of the disease.[3] Treatments can relieve some symptoms and, in some, improve quality of life.[4] The best evidence for treatment of the movement problems is with tetrabenazine.[4] HD affects about 4 to 15 in 100,000 people of European descent.[2][4] It is rare among Japanese, while the occurrence rate in Africa is unknown.[4] The disease affects men and women equally.[4] Complications such as pneumonia, heart disease, and physical injury from falls reduce life expectancy.[4] Suicide is the cause of death in about 9% of cases.[4] Death typically occurs 15–20 years from when the disease was first detected.[5]
The first likely description of the disease was in 1841 by American physician Charles Oscar Waters.[9] The condition was described in further detail in 1872 by American physician George Huntington.[9] The genetic basis was discovered in 1993 by an international collaborative effort led by the Hereditary Disease Foundation.[10][11] Research and support organizations began forming in the late 1960s to increase public awareness, provide support for individuals and their families and promote research.[11][12] Current research directions include determining the exact mechanism of the disease, improving animal models to aid with research, testing of medications to treat symptoms or slow the progression of the disease, and studying procedures such as stem cell therapy with the goal of repairing damage caused by the disease.[10]
References[edit]
- ^ Lawrence, David M. (2009). Huntington's Disease. Infobase Publishing. p. 21. ISBN 9780791095867. Archived from the original on 1 August 2020. Retrieved 12 July 2020.
- ^ a b c d e f g h i j k Dayalu P, Albin RL (February 2015). "Huntington disease: pathogenesis and treatment". Neurologic Clinics. 33 (1): 101–14. doi:10.1016/j.ncl.2014.09.003. PMID 25432725.
- ^ a b c d e f Caron NS, Wright GE, Hayden MR (2014). Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). "Huntington Disease". GeneReviews. PMID 20301482.
- ^ a b c d e f g h i j k l Frank S (January 2014). "Treatment of Huntington's disease". Neurotherapeutics. 11 (1): 153–60. doi:10.1007/s13311-013-0244-z. PMC 3899480. PMID 24366610.
- ^ a b c d e f g h i j k "Huntington's Disease Information Page: National Institute of Neurological Disorders and Stroke (NINDS)". NINDS. 28 January 2016. Archived from the original on 27 July 2016. Retrieved 19 July 2016.
- ^ a b Durr A, Gargiulo M, Feingold J (November 2012). "The presymptomatic phase of Huntington disease". Revue Neurologique. 168 (11): 806–8. doi:10.1016/j.neurol.2012.07.003. PMID 22902173.
- ^ Ferri, Fred F. (2010). Ferri's differential diagnosis : a practical guide to the differential diagnosis of symptoms, signs, and clinical disorders (2nd ed.). Philadelphia, PA: Elsevier/Mosby. p. Chapter H. ISBN 978-0323076999.
- ^ "Huntington's disease". www.nhsinform.scot. Archived from the original on 12 July 2020. Retrieved 12 July 2020.
- ^ a b Vale TC, Cardoso F (2015). "Chorea: A Journey through History". Tremor and Other Hyperkinetic Movements. 5. doi:10.7916/D8WM1C98. PMC 4454991. PMID 26056609.
- ^ a b "Learning About Huntington's Disease". www.genome.gov. Archived from the original on 4 July 2016. Retrieved 19 July 2016.
- ^ a b "History of the HDF". Hereditary Disease Foundation. Archived from the original on 19 November 2015. Retrieved 18 November 2015.
- ^ "Huntington's Disease Society of America – Our History". Huntington's Disease Society of America. 2008. Archived from the original on 9 April 2015. Retrieved 17 March 2009.