JHD
MCID: JVN015
MIFTS: 26

Juvenile Huntington Disease (JHD)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Juvenile Huntington Disease

MalaCards integrated aliases for Juvenile Huntington Disease:

Name: Juvenile Huntington Disease 52 71
Juvenile Onset Huntington's Disease 29
Huntington Disease, Juvenile Onset 52
Juvenile Huntington Chorea 52
Juvenile Onset Hd 52
Jhd 52

Classifications:



Summaries for Juvenile Huntington Disease

NIH Rare Diseases : 52 Juvenile Huntington disease (HD) is a less common, early-onset form of Huntington disease that begins in childhood or adolescence. It is a progressive disorder that causes the breakdown of brain cells in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotional disturbances. Juvenile HD is defined by the onset of symptoms before age 20 years and accounts for 5-10% of all HD cases. It is inherited in an autosomal dominant pattern and is caused by a type of mutation called a trinucleotide repeat , in the HTT gene . Most often, children with juvenile HD inherit the mutation repeat from their fathers, although on occasion they inherit it from their mothers. Juvenile Huntington disease has a rapid disease progression once symptoms present. There currently is no cure. Treatment is supportive and focused on increasing quality of life. Most people with juvenile HD do not survive more than 10 to 15 years after symptoms begin.

MalaCards based summary : Juvenile Huntington Disease, also known as juvenile onset huntington's disease, is related to huntington disease and striatonigral degeneration, infantile. Affiliated tissues include brain, eye and testes, and related phenotypes are irritability and weight loss

Related Diseases for Juvenile Huntington Disease

Graphical network of the top 20 diseases related to Juvenile Huntington Disease:



Diseases related to Juvenile Huntington Disease

Symptoms & Phenotypes for Juvenile Huntington Disease

Human phenotypes related to Juvenile Huntington Disease:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 irritability 31 frequent (33%) HP:0000737
2 weight loss 31 frequent (33%) HP:0001824
3 hyperreflexia 31 frequent (33%) HP:0001347
4 depressivity 31 frequent (33%) HP:0000716
5 dystonia 31 frequent (33%) HP:0001332
6 chorea 31 frequent (33%) HP:0002072
7 gait ataxia 31 frequent (33%) HP:0002066
8 broad-based gait 31 frequent (33%) HP:0002136
9 rigidity 31 frequent (33%) HP:0002063
10 dementia 31 frequent (33%) HP:0000726
11 hyperactivity 31 frequent (33%) HP:0000752
12 abnormality of the cerebral white matter 31 frequent (33%) HP:0002500
13 bradykinesia 31 frequent (33%) HP:0002067
14 oral motor hypotonia 31 frequent (33%) HP:0030190
15 abnormal involuntary eye movements 31 frequent (33%) HP:0012547
16 neuronal loss in basal ganglia 31 frequent (33%) HP:0200147
17 seizure 31 frequent (33%) HP:0001250
18 myoclonus 31 occasional (7.5%) HP:0001336
19 ventriculomegaly 31 occasional (7.5%) HP:0002119
20 cerebellar atrophy 31 occasional (7.5%) HP:0001272
21 cerebellar vermis atrophy 31 occasional (7.5%) HP:0006855
22 progressive cerebellar ataxia 31 occasional (7.5%) HP:0002073

Drugs & Therapeutics for Juvenile Huntington Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation for Control, Management and Treatment of HD Unknown status NCT00675077 Phase 1

Search NIH Clinical Center for Juvenile Huntington Disease

Genetic Tests for Juvenile Huntington Disease

Genetic tests related to Juvenile Huntington Disease:

# Genetic test Affiliating Genes
1 Juvenile Onset Huntington's Disease 29

Anatomical Context for Juvenile Huntington Disease

MalaCards organs/tissues related to Juvenile Huntington Disease:

40
Brain, Eye, Testes

Publications for Juvenile Huntington Disease

Articles related to Juvenile Huntington Disease:

(show top 50) (show all 54)
# Title Authors PMID Year
1
Positron Emission Tomography in Pediatric Neurodegenerative Disorders. 61
31416725 2019
2
Attending to Total Pain in Juvenile Huntington Disease: A Case Report Informed by Narrative Review of the Literature. 61
30950323 2019
3
Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease? 61
30788860 2019
4
Assessment of the Performance of a Modified Motor Scale as Applied to Juvenile Onset Huntington's Disease. 61
30856116 2019
5
Clinical Presentation and Features of Juvenile-Onset Huntington's Disease: A Systematic Review. 61
31045518 2019
6
Morphological features in juvenile Huntington disease associated with cerebellar atrophy - magnetic resonance imaging morphometric analysis. 61
29926145 2018
7
Generation of the induced pluripotent stem cell line CSSi006-A (3681) from a patient affected by advanced-stage Juvenile Onset Huntington's Disease. 61
29704769 2018
8
Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease. 61
29342448 2018
9
A Case of Previously Unsuspected Huntington Disease Diagnosed at Autopsy. 61
31239966 2017
10
Juvenile Huntington disease in Argentina. 61
26602194 2016
11
Abnormal Weight and Body Mass Index in Children with Juvenile Huntington's Disease. 61
26443925 2015
12
Qualitative study on the placement of Huntington disease patients in a psychiatric hospital: perceptions of Maltese nurses. 61
23656578 2013
13
[Juvenile Huntington disease: A case study]. 61
23993422 2013
14
Photoclinic. Juvenile Huntington disease. 61
24093146 2013
15
Typical clinical findings should prompt investigation for juvenile Huntington disease. 61
23498572 2013
16
Family history in juvenile Huntington disease: do the signs point to "yes" or "very doubtful"? 61
23390171 2013
17
The challenge of juvenile Huntington disease: to test or not to test. 61
23390178 2013
18
[Nineteen cases of school-aged children with degenerative or metabolic neurological disorders initially presenting with learning difficulty and/or behavior disturbance]. 61
22844760 2012
19
Cortical myoclonus in childhood and juvenile onset Huntington's disease. 61
22494662 2012
20
Cognitive and psychiatric phenotypes of movement disorders in children: a systematic review. 61
21950517 2011
21
Westphal variant Huntington disease and refractory catatonia: a case report. 61
22123587 2011
22
Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume. 61
21412977 2011
23
A case of juvenile huntington disease in a 6-year-old boy. 61
24868381 2010
24
Juvenile Huntington's disease: a case report and literature review. 61
21117003 2010
25
Early testing for Huntington disease in children: pros and cons. 61
19808987 2010
26
Neuronal Intranuclear Inclusion Disease presenting as juvenile Parkinsonism. 61
20437931 2010
27
A survey of (CAG)n repeats causing juvenile Huntington disease in an Iranian family with 4 affected members. 61
21048629 2009
28
MR-spectroscopic findings in juvenile-onset Huntington's disease. 61
18759332 2008
29
Juvenile Huntington disease exacerbated by methylphenidate: case report. 61
18658080 2008
30
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. 61
17562929 2007
31
Huntington disease in a 9-year-old boy: clinical course and neuropathologic examination. 61
17156701 2006
32
Juvenile Huntington disease. 61
16925544 2006
33
Intergeneration CAG expansion and contraction in a Chinese HD family. 61
16526033 2006
34
Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature. 61
16901424 2006
35
Clinical presentation of juvenile Huntington disease. 61
16622544 2006
36
Palliative care management of a child with juvenile onset Huntington's disease. 61
16010224 2005
37
MR imaging and spectroscopy in juvenile Huntington disease. 61
15042332 2004
38
The gender effect in juvenile Huntington disease patients of Italian origin. 61
14755452 2004
39
Enkephalinergic striatal projection neurons become less affected by quinolinic acid than substance P-containing striatal projection neurons as rats age. 61
14769398 2003
40
[Juvenile onset Huntington's disease: correlation with progressive myoclonus epilepsy]. 61
12483860 2002
41
Juvenile onset Huntington's disease--clinical and research perspectives. 61
11553930 2001
42
Dystonia-predominant adult-onset Huntington disease: association between motor phenotype and age of onset in adults. 61
10987900 2000
43
The expanded CAG repeat associated with juvenile Huntington disease shows a common origin of most or all neurons and glia in human cerebrum. 61
10832020 2000
44
Juvenile Huntington's disease: report of one case. 61
9823684 1998
45
Juvenile onset Huntington's disease in an Omani child with asymptomatic, at risk parents. 61
9279769 1997
46
[A case of juvenile Huntington's disease presenting dystonia and confirmed by DNA analysis]. 61
9248290 1997
47
Juvenile Huntington disease in the Netherlands. 61
9308974 1997
48
Juvenile Huntington disease: CT and MR features. 61
7484624 1995
49
Normal CAG and CCG repeats in the Huntington's disease genes of Parkinson's disease patients. 61
7485243 1995
50
Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent. 61
8268906 1993

Variations for Juvenile Huntington Disease

Expression for Juvenile Huntington Disease

Search GEO for disease gene expression data for Juvenile Huntington Disease.

Pathways for Juvenile Huntington Disease

GO Terms for Juvenile Huntington Disease

Sources for Juvenile Huntington Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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