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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
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
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

Definition

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 GTR]

Additional descriptions

From GeneReviews
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.  https://www.ncbi.nlm.nih.gov/books/NBK1305
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
A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure.
Seizure Disorders
MedGen UID:
4506
Concept ID:
C0014544
Disease or Syndrome
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
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
An involuntary, persistent state of firm, tense muscles with marked resistance to passive movement.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above.
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
A noticeable change in a person's behavior and thinking. Causes include depression, drug or alcohol abuse, brain injuries, brain tumors, and Alzheimer's disease.
Degeneration of cerebellum
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
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.
Gait ataxia
MedGen UID:
155642
Concept ID:
C0751837
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
Neuronal loss in central nervous system
MedGen UID:
342515
Concept ID:
C1850496
Finding
Choreatic disease
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
Pearce I, Heathfield KW, Pearce MJ
Arch Neurol 1977 May;34(5):308-9. PMID: 140642
Kartzinel R, Hunt RD, Calne DB
Arch Neurol 1976 Jul;33(7):517-8. PMID: 132915

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
Arch Neurol 2003 Jul;60(7):996-8. doi: 10.1001/archneur.60.7.996. PMID: 12873857
Ital J Neurol Sci 1990 Dec;11(6):623-5. PMID: 2150513
Morales AJ, Murphy EA, Krush AJ
Am J Med Genet 1984 Apr;17(4):783-801. doi: 10.1002/ajmg.1320170409. PMID: 6720745
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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