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Huntington chorea(HD)

MedGen UID:
5654
Concept ID:
C0020179
Disease or Syndrome
Synonyms: HD; Huntington Disease; Huntington's chorea; Huntington's disease
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: HC - Huntington chorea (58756001); HD - Huntington chorea (58756001); Huntington chorea (58756001); Huntington's chorea (58756001); Chronic progressive chorea (58756001); Chronic progressive hereditary chorea (58756001)
 
Genes (locations): HTT (4p16.3); TBX18 (6q14.3)
OMIM®: 143100
Orphanet: ORPHA399

Disease characteristics

Excerpted from the GeneReview: Huntington Disease
Huntington disease (HD) is a progressive disorder of motor, cognitive, and psychiatric disturbances. The mean age of onset is 35 to 44 years and the median survival time is 15 to 18 years after onset. [from GeneReviews]
Authors:
Simon C Warby  |  Rona K Graham  |  Michael R Hayden   view full author information

Additional descriptions

From OMIM
Huntington disease (HD) is an autosomal dominant progressive neurodegenerative disorder with a distinct phenotype characterized by chorea, dystonia, incoordination, cognitive decline, and behavioral difficulties. There is progressive, selective neural cell loss and atrophy in the caudate and putamen. Walker (2007) provided a detailed review of Huntington disease, including clinical features, population genetics, molecular biology, and animal models.  http://www.omim.org/entry/143100
From GHR
Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition).Adult-onset Huntington disease, the most common form of this disorder, usually appears in a person's thirties or forties. Early signs and symptoms can include irritability, depression, small involuntary movements, poor coordination, and trouble learning new information or making decisions. Many people with Huntington disease develop involuntary jerking or twitching movements known as chorea. As the disease progresses, these movements become more pronounced. Affected individuals may have trouble walking, speaking, and swallowing. People with this disorder also experience changes in personality and a decline in thinking and reasoning abilities. Individuals with the adult-onset form of Huntington disease usually live about 15 to 20 years after signs and symptoms begin.A less common form of Huntington disease known as the juvenile form begins in childhood or adolescence. It also involves movement problems and mental and emotional changes. Additional signs of the juvenile form include slow movements, clumsiness, frequent falling, rigidity, slurred speech, and drooling. School performance declines as thinking and reasoning abilities become impaired. Seizures occur in 30 percent to 50 percent of children with this condition. Juvenile Huntington disease tends to progress more quickly than the adult-onset form; affected individuals usually live 10 to 15 years after signs and symptoms appear.  https://ghr.nlm.nih.gov/condition/huntington-disease

Clinical features

Abnormality of eye movement
MedGen UID:
99227
Concept ID:
C0497202
Finding
An abnormality in voluntary or involuntary eye movements or their control.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Depression is a serious medical illness that involves the brain. It's more than just a feeling of being "down in the dumps" or "blue" for a few days. If you are one of the more than 20 million people in the United States who have depression, the feelings do not go away. They persist and interfere with your everyday life. Symptoms can include : -Sadness. -Loss of interest or pleasure in activities you used to enjoy. -Change in weight. -Difficulty sleeping or oversleeping. -Energy loss. -Feelings of worthlessness. -Thoughts of death or suicide. Depression is a disorder of the brain. There are a variety of causes, including genetic, environmental, psychological, and biochemical factors. Depression usually starts between the ages of 15 and 30, and is much more common in women. Women can also get postpartum depression after the birth of a baby. Some people get seasonal affective disorder in the winter. Depression is one part of bipolar disorder. There are effective treatments for depression, including antidepressants and talk therapy. Most people do best by using both. . NIH: National Institute of Mental Health.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with epilepsy. NIH: National Institute of Neurological Disorders and Stroke.
Gliosis
MedGen UID:
4899
Concept ID:
C0017639
Pathologic Function
Gliosis is the focal proliferation of glial cells in the central nervous system.
Rigidity
MedGen UID:
7752
Concept ID:
C0026837
Sign or Symptom
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Bradykinesia
MedGen UID:
115925
Concept ID:
C0233565
Sign or Symptom
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Personality changes
MedGen UID:
66817
Concept ID:
C0240735
Sign or Symptom
An abnormal shift in patterns of thinking, acting, or feeling.
Cerebellar degeneration
MedGen UID:
75496
Concept ID:
C0262404
Disease or Syndrome
Atrophy (wasting) of the cerebellum.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
Dementia is the name for a group of symptoms caused by disorders that affect the brain. It is not a specific disease. People with dementia may not be able to think well enough to do normal activities, such as getting dressed or eating. They may lose their ability to solve problems or control their emotions. Their personalities may change. They may become agitated or see things that are not there. . Memory loss is a common symptom of dementia. However, memory loss by itself does not mean you have dementia. People with dementia have serious problems with two or more brain functions, such as memory and language. Although dementia is common in very elderly people, it is not part of normal aging. Many different diseases can cause dementia, including Alzheimer's disease and stroke. Drugs are available to treat some of these diseases. While these drugs cannot cure dementia or repair brain damage, they may improve symptoms or slow down the disease. NIH: National Institute of Neurological Disorders and Stroke.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES.
Neuronal loss in central nervous system
MedGen UID:
342515
Concept ID:
C1850496
Finding
Chorea
MedGen UID:
892725
Concept ID:
C4020858
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.

Professional guidelines

PubMed

Craufurd D, MacLeod R, Frontali M, Quarrell O, Bijlsma EK, Davis M, Hjermind LE, Lahiri N, Mandich P, Martinez A, Tibben A, Roos RA; Working Group on Genetic Counselling and Testing of the European Huntington's Disease Network (EHDN).
Pract Neurol 2015 Feb;15(1):80-4. Epub 2014 Aug 28 doi: 10.1136/practneurol-2013-000790. PMID: 25169240
Losekoot M, van Belzen MJ, Seneca S, Bauer P, Stenhouse SA, Barton DE; European Molecular Genetic Quality Network (EMQN).
Eur J Hum Genet 2013 May;21(5):480-6. Epub 2012 Sep 19 doi: 10.1038/ejhg.2012.200. PMID: 22990145Free PMC Article
MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales A, Roos RA; Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network.
Clin Genet 2013 Mar;83(3):221-31. Epub 2012 Jul 30 doi: 10.1111/j.1399-0004.2012.01900.x. PMID: 22642570
Armstrong MJ, Miyasaki JM; American Academy of Neurology.
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Recent clinical studies

Etiology

Somenarain L, Jones LB
J Psychiatr Res 2010 Aug;44(11):694-9. Epub 2010 Jan 22 doi: 10.1016/j.jpsychires.2009.12.006. PMID: 20092829
Ital J Neurol Sci 1990 Dec;11(6):623-5. PMID: 2150513
Lamport AT
Am J Med Genet 1987 Feb;26(2):307-14. doi: 10.1002/ajmg.1320260208. PMID: 2949614
Smurl JF, Weaver DD
Am J Med Genet 1987 Feb;26(2):247-57. doi: 10.1002/ajmg.1320260203. PMID: 2949609
Martello N, Santos JL, Frota-Pessoa O
J Genet Hum 1978 Mar;26(1):33-53. PMID: 149840

Diagnosis

Sadeghian H, O'Suilleabhain PE, Battiste J, Elliott JL, Trivedi JR
Arch Neurol 2011 May;68(5):650-2. doi: 10.1001/archneurol.2011.76. PMID: 21555641
Somenarain L, Jones LB
J Psychiatr Res 2010 Aug;44(11):694-9. Epub 2010 Jan 22 doi: 10.1016/j.jpsychires.2009.12.006. PMID: 20092829
Ital J Neurol Sci 1990 Dec;11(6):623-5. PMID: 2150513
Lamport AT
Am J Med Genet 1987 Feb;26(2):307-14. doi: 10.1002/ajmg.1320260208. PMID: 2949614
Smurl JF, Weaver DD
Am J Med Genet 1987 Feb;26(2):247-57. doi: 10.1002/ajmg.1320260203. PMID: 2949609

Therapy

Chen JJ, Ondo WG, Dashtipour K, Swope DM
Clin Ther 2012 Jul;34(7):1487-504. Epub 2012 Jun 28 doi: 10.1016/j.clinthera.2012.06.010. PMID: 22749259
Tsuneizumi T, Anai K, Aoba A, Yamaguchi N, Takagi H, Chishima T, Sakai T, Negishi K, Kamimura M, Takeshita T
Prog Neuropsychopharmacol Biol Psychiatry 1994 Jul;18(4):823-9. PMID: 7938569
Smurl JF, Weaver DD
Am J Med Genet 1987 Feb;26(2):247-57. doi: 10.1002/ajmg.1320260203. PMID: 2949609
Aquilonius SM, Eckernas SA
Neurology 1977 Sep;27(9):887-9. PMID: 142929
Pearce I, Heathfield KW, Pearce MJ
Arch Neurol 1977 May;34(5):308-9. PMID: 140642

Prognosis

Liu CS, Cheng WL, Kuo SJ, Li JY, Soong BW, Wei YH
J Neurol Sci 2008 Jan 15;264(1-2):18-21. Epub 2007 Aug 27 doi: 10.1016/j.jns.2007.07.016. PMID: 17720200
O'Suilleabhain P, Dewey RB Jr
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Pavoni M, Granieri E, Govoni V, Pavoni V, Del Senno L, Mapelli G
Neuroepidemiology 1990;9(6):306-14. PMID: 2151397
Ital J Neurol Sci 1990 Dec;11(6):623-5. PMID: 2150513
Goebel HH, Heipertz R, Scholz W, Iqbal K, Tellez-Nagel I
Neurology 1978 Jan;28(1):23-31. PMID: 145549

Clinical prediction guides

Lee SJ, Lee WY, Kim YK, An YS, Cho JW, Choi JY, Kim BT, Lee KH
Clin Nucl Med 2012 Jul;37(7):663-8. doi: 10.1097/RLU.0b013e3182478bf2. PMID: 22691507
Somenarain L, Jones LB
J Psychiatr Res 2010 Aug;44(11):694-9. Epub 2010 Jan 22 doi: 10.1016/j.jpsychires.2009.12.006. PMID: 20092829
O'Suilleabhain P, Dewey RB Jr
Arch Neurol 2003 Jul;60(7):996-8. doi: 10.1001/archneur.60.7.996. PMID: 12873857
Tsuneizumi T, Anai K, Aoba A, Yamaguchi N, Takagi H, Chishima T, Sakai T, Negishi K, Kamimura M, Takeshita T
Prog Neuropsychopharmacol Biol Psychiatry 1994 Jul;18(4):823-9. PMID: 7938569
Ital J Neurol Sci 1990 Dec;11(6):623-5. PMID: 2150513

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