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Juvenile Huntington disease(JHD)

MedGen UID:
155518
Concept ID:
C0751208
Disease or Syndrome
Synonyms: Huntington disease, juvenile onset; JHD; Juvenile onset HD; Juvenile onset Huntington's disease
SNOMED CT: Juvenile onset Huntington disease (230299004); Juvenile onset Huntington's disease (230299004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: 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.
 
Monarch Initiative: MONDO:0016621
Orphanet: ORPHA248111

Definition

A less common form of Huntington's 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's disease tends to progress more quickly than the adult-onset form; affected individuals usually live 10 to 15 years after signs and symptoms appear.

Adult-onset Huntington's 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's 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's disease usually live about 15 to 20 years after signs and symptoms begin.

Huntington's disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Juvenile Huntington disease in Orphanet.

Professional guidelines

PubMed

Simpson JA, Lovecky D, Kogan J, Vetter LA, Yohrling GJ
J Huntingtons Dis 2016 Dec 15;5(4):395-403. doi: 10.3233/JHD-160228. PMID: 27983566

Recent clinical studies

Etiology

PerezGrovas-Saltijeral A, Ochoa-Morales A, Jara-Prado A, Velázquez-Cruz R, Rivera-Paredez B, Dávila-OrtizdeMontellano D, Benítez-Alonso EO, Santamaría-Olmedo M, Sevilla-Montoya R, Marfil-Marín E, Valdés-Flores M, Martínez-Ruano L, Camacho-Molina A, Hidalgo-Bravo A
Eur J Neurol 2023 Mar;30(3):612-621. Epub 2022 Dec 8 doi: 10.1111/ene.15644. PMID: 36421025
Gatto EM, Parisi V, Etcheverry JL, Sanguinetti A, Cordi L, Binelli A, Persi G, Squitieri F
Arq Neuropsiquiatr 2016 Jan;74(1):50-4. Epub 2015 Nov 24 doi: 10.1590/0004-282X20150192. PMID: 26602194
Koutsis G, Karadima G, Kladi A, Panas M
Neurology 2013 Mar 12;80(11):990-6. Epub 2013 Feb 6 doi: 10.1212/WNL.0b013e31828727fa. PMID: 23390178
Ribaï P, Nguyen K, Hahn-Barma V, Gourfinkel-An I, Vidailhet M, Legout A, Dodé C, Brice A, Dürr A
Arch Neurol 2007 Jun;64(6):813-9. doi: 10.1001/archneur.64.6.813. PMID: 17562929
Siesling S, Vegter-van der Vlis M, Roos RA
Pediatr Neurol 1997 Jul;17(1):37-43. doi: 10.1016/s0887-8994(97)00069-6. PMID: 9308974

Diagnosis

Chugani HT
Pediatr Neurol 2019 Nov;100:12-25. Epub 2019 Jul 17 doi: 10.1016/j.pediatrneurol.2019.07.003. PMID: 31416725
Koutsis G, Karadima G, Kladi A, Panas M
Neurology 2013 Mar 12;80(11):990-6. Epub 2013 Feb 6 doi: 10.1212/WNL.0b013e31828727fa. PMID: 23390178
Geevasinga N, Richards FH, Jones KJ, Ryan MM
J Paediatr Child Health 2006 Sep;42(9):552-4. doi: 10.1111/j.1440-1754.2006.00921.x. PMID: 16925544
Siesling S, Vegter-van der Vlis M, Roos RA
Pediatr Neurol 1997 Jul;17(1):37-43. doi: 10.1016/s0887-8994(97)00069-6. PMID: 9308974
Ho VB, Chuang HS, Rovira MJ, Koo B
AJNR Am J Neuroradiol 1995 Aug;16(7):1405-12. PMID: 7484624Free PMC Article

Therapy

Merida-Puga J, Ramirez-Bermudez J, Aguilar-Venegas LC, Fricchione GL, Espinola-Nadurille M
Cogn Behav Neurol 2011 Dec;24(4):204-8. doi: 10.1097/WNN.0b013e318240080d. PMID: 22123587
Waugh JL, Miller VS, Chudnow RS, Dowling MM
J Child Neurol 2008 Jul;23(7):807-9. doi: 10.1177/0883073808314152. PMID: 18658080

Prognosis

Koutsis G, Karadima G, Kladi A, Panas M
Neurology 2013 Mar 12;80(11):990-6. Epub 2013 Feb 6 doi: 10.1212/WNL.0b013e31828727fa. PMID: 23390178
Ribaï P, Nguyen K, Hahn-Barma V, Gourfinkel-An I, Vidailhet M, Legout A, Dodé C, Brice A, Dürr A
Arch Neurol 2007 Jun;64(6):813-9. doi: 10.1001/archneur.64.6.813. PMID: 17562929
Wojaczyńska-Stanek K, Adamek D, Marszał E, Hoffman-Zacharska D
J Child Neurol 2006 Dec;21(12):1068-73. doi: 10.1177/7010.2006.00244. PMID: 17156701
Siesling S, Vegter-van der Vlis M, Roos RA
Pediatr Neurol 1997 Jul;17(1):37-43. doi: 10.1016/s0887-8994(97)00069-6. PMID: 9308974
Telenius H, Kremer HP, Theilmann J, Andrew SE, Almqvist E, Anvret M, Greenberg C, Greenberg J, Lucotte G, Squitieri F
Hum Mol Genet 1993 Oct;2(10):1535-40. doi: 10.1093/hmg/2.10.1535. PMID: 8268906

Clinical prediction guides

PerezGrovas-Saltijeral A, Ochoa-Morales A, Jara-Prado A, Velázquez-Cruz R, Rivera-Paredez B, Dávila-OrtizdeMontellano D, Benítez-Alonso EO, Santamaría-Olmedo M, Sevilla-Montoya R, Marfil-Marín E, Valdés-Flores M, Martínez-Ruano L, Camacho-Molina A, Hidalgo-Bravo A
Eur J Neurol 2023 Mar;30(3):612-621. Epub 2022 Dec 8 doi: 10.1111/ene.15644. PMID: 36421025
Bakels HS, Roos RAC, van Roon-Mom WMC, de Bot ST
Mov Disord 2022 Jan;37(1):16-24. Epub 2021 Oct 12 doi: 10.1002/mds.28823. PMID: 34636452Free PMC Article
Hedjoudje A, Nicolas G, Goldenberg A, Vanhulle C, Dumant-Forrest C, Deverrière G, Treguier P, Michelet I, Guyant-Maréchal L, Devys D, Gerardin E, Dacher JN, Vivier PH
Pediatr Radiol 2018 Sep;48(10):1463-1471. Epub 2018 Jun 20 doi: 10.1007/s00247-018-4167-z. PMID: 29926145
Wojaczyńska-Stanek K, Adamek D, Marszał E, Hoffman-Zacharska D
J Child Neurol 2006 Dec;21(12):1068-73. doi: 10.1177/7010.2006.00244. PMID: 17156701
Gonzalez-Alegre P, Afifi AK
J Child Neurol 2006 Mar;21(3):223-9. doi: 10.2310/7010.2006.00055. PMID: 16901424

Recent systematic reviews

Ben-Pazi H, Jaworowski S, Shalev RS
Dev Med Child Neurol 2011 Dec;53(12):1077-84. Epub 2011 Sep 27 doi: 10.1111/j.1469-8749.2011.04134.x. PMID: 21950517

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