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Huntington's chorea(HD)

MedGen UID:
5654
Concept ID:
C0020179
Disease or Syndrome
Synonyms: HD; Huntington chorea; Huntington Chronic Progressive Hereditary Chorea; Huntington Disease; Huntington's disease; Progressive Chorea, Chronic Hereditary (Huntington)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
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).
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)
 
Gene: HTT
Cytogenetic location: 4p16.3
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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
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.  http://ghr.nlm.nih.gov/condition/huntington-disease

Clinical features

Abnormality of eye movement
MedGen UID:
424997
Concept ID:
CN000464
Finding
An abnormality in voluntary or involuntary eye movements or their control.
EEG abnormality
MedGen UID:
56235
Concept ID:
C0151611
Finding
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding
Depression
MedGen UID:
137999
Concept ID:
C0344315
Finding
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Neuronal loss in central nervous system
MedGen UID:
342515
Concept ID:
C1850496
Finding
Behavioral abnormality
MedGen UID:
425007
Concept ID:
CN000665
Finding
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Dementia
MedGen UID:
504574
Concept ID:
CN000683
Finding
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Personality changes
MedGen UID:
504584
Concept ID:
CN000707
Finding
An abnormal shift in patterns of thinking, acting, or feeling.
Rigidity
MedGen UID:
505075
Concept ID:
CN001866
Finding
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.
Bradykinesia
MedGen UID:
505077
Concept ID:
CN001869
Finding
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).
Chorea
MedGen UID:
505081
Concept ID:
CN001874
Finding
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion.
Cerebral cortical atrophy
MedGen UID:
505113
Concept ID:
CN001920
Finding
Atrophy of the cortex of the cerebrum.
Gliosis
MedGen UID:
505139
Concept ID:
CN001968
Finding
The presence of gliosis in the central nervous system.
Abnormality of movement
MedGen UID:
506445
Concept ID:
CN116921
Finding
An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
Abnormality of the voice
MedGen UID:
425062
Concept ID:
CN001464
Finding
Any abnormality of the voice.
Hypertonia
MedGen UID:
115988
Concept ID:
C0235396
Finding

Professional guidelines

PubMed

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. [Epub ahead of print] PMID: 22642570
Potter NT, Spector EB, Prior TW
Genet Med 2004 Jan-Feb;6(1):61-5. doi: 10.109701.GIM.0000106165.74751.15. PMID: 14726813
Am J Hum Genet 1998 May;62(5):1243-7. PMID: 9545416Free PMC Article
Am J Hum Genet 1995 Nov;57(5):1233-41. PMID: 7485175Free PMC Article
Neurology 1994 Aug;44(8):1533-6. PMID: 8058167
J Med Genet 1994 Jul;31(7):555-9. PMID: 7966192Free PMC Article
J Neurol Sci 1989 Dec;94(1-3):327-32. PMID: 2533250

Recent clinical studies

Etiology

Watt DC, Seller A
Psychol Med 1993;Suppl 23:1-46. PMID: 8108531
Walters AS, McHale D, Sage JI, Hening WA, Bergen M
Clin Neuropharmacol 1990 Jun;13(3):236-40. PMID: 2141544
Palacios JM, Rigo M, Chinaglia G, Probst A
Brain Res 1990 Jul 9;522(2):342-6. PMID: 1977497
Perry TL, Hansen S, Wall RA, Gauthier SG
J Neurochem 1982 Mar;38(3):766-73. PMID: 6460090
Scott DF, Heathfield KW, Toone B, Margerison JH
J Neurol Neurosurg Psychiatry 1972 Feb;35(1):97-102. PMID: 4260288Free PMC Article

Diagnosis

Hashimoto K, Ito Y, Tanahashi H, Hayashi M, Yamakita N, Yasuda K
J Clin Endocrinol Metab 2012 Sep;97(9):3016-20. Epub 2012 Jun 28 doi: 10.1210/jc.2012-1190. [Epub ahead of print] PMID: 22745234
Watt DC, Seller A
Psychol Med 1993;Suppl 23:1-46. PMID: 8108531
Walters AS, McHale D, Sage JI, Hening WA, Bergen M
Clin Neuropharmacol 1990 Jun;13(3):236-40. PMID: 2141544
Perry TL, Hansen S, Wall RA, Gauthier SG
J Neurochem 1982 Mar;38(3):766-73. PMID: 6460090
Scott DF, Heathfield KW, Toone B, Margerison JH
J Neurol Neurosurg Psychiatry 1972 Feb;35(1):97-102. PMID: 4260288Free PMC Article

Therapy

Mann RK, Edwards R, Zhou J, Fenney A, Jog M, Duval C
Exp Brain Res 2012 May;218(4):639-54. Epub 2012 Mar 21 doi: 10.1007/s00221-012-3057-0. [Epub ahead of print] PMID: 22434341
Sabbagh MN, Shill HA
Curr Opin Investig Drugs 2010 Jan;11(1):80-91. PMID: 20047162Free PMC Article
Med Lett Drugs Ther 2009 Jan 26;51(1304):7-8. PMID: 19172140
Walters AS, McHale D, Sage JI, Hening WA, Bergen M
Clin Neuropharmacol 1990 Jun;13(3):236-40. PMID: 2141544
Hayden MR, Vinik AI, Paul M, Beighton P
Lancet 1977 Aug 27;2(8035):423-6. PMID: 70642

Prognosis

Nagele P, Hammerle AF
Br J Anaesth 2000 Aug;85(2):320-1. PMID: 10992848
Upadhyaya M, Reynolds GP, Harper PS
J Clin Pathol 1985 Oct;38(10):1093-5. PMID: 2932475Free PMC Article
Perry TL, Hansen S, Wall RA, Gauthier SG
J Neurochem 1982 Mar;38(3):766-73. PMID: 6460090
McGovern D, Webb T
J Med Genet 1982 Jun;19(3):168-74. PMID: 6213774Free PMC Article
Hayden MR, Vinik AI, Paul M, Beighton P
Lancet 1977 Aug 27;2(8035):423-6. PMID: 70642

Clinical prediction guides

Hashimoto K, Ito Y, Tanahashi H, Hayashi M, Yamakita N, Yasuda K
J Clin Endocrinol Metab 2012 Sep;97(9):3016-20. Epub 2012 Jun 28 doi: 10.1210/jc.2012-1190. [Epub ahead of print] PMID: 22745234
Bédard C, Wallman MJ, Pourcher E, Gould PV, Parent A, Parent M
Parkinsonism Relat Disord 2011 Sep;17(8):593-8. Epub 2011 Jun 12 doi: 10.1016/j.parkreldis.2011.05.012. [Epub ahead of print] PMID: 21664855
Waeber C, Rigo M, Chinaglia G, Probst A, Palacios JM
Synapse 1991 Aug;8(4):270-80. doi: 10.1002/syn.890080405. PMID: 1656540
Palacios JM, Rigo M, Chinaglia G, Probst A
Brain Res 1990 Jul 9;522(2):342-6. PMID: 1977497
Perry TL, Hansen S, Wall RA, Gauthier SG
J Neurochem 1982 Mar;38(3):766-73. PMID: 6460090

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