Juvenile Huntington disease

General Information (adopted from Orphanet):

Synonyms, Signs: HUNTINGTON CHOREA
HD
JHD
Juvenile Huntington chorea
Number of Symptoms 19
OrphanetNr: 248111
OMIM Id: 143100
ICD-10: G10
UMLs: C0751208
MeSH:
MedDRA:
Snomed: 230299004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
Adolescent
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic neurodegenerative disease
 -Rare genetic disease
Genetic neurodegenerative disease with dementia
 -Rare genetic disease
Neurodegenerative disease with chorea
 -Rare genetic disease
 -Rare neurologic disease
Neurodegenerative disease with dementia
 -Rare neurologic disease
Oculomotor apraxia or related oculomotor disease
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000496) Abnormality of eye movement 79 / 7739
2
(HPO:0001250) Seizures 1245 / 7739
3
(HPO:0002067) Bradykinesia 62 / 7739
4
(HPO:0000726) Dementia 131 / 7739
5
(HPO:0000751) Personality changes 33 / 7739
6
(HPO:0002311) Incoordination 84 / 7739
7
(HPO:0001327) Photomyoclonic seizures 125 / 7739
8
(HPO:0002066) Gait ataxia 327 / 7739
9
(HPO:0000716) Depression 99 / 7739
10
(HPO:0002063) Rigidity Occasional [HPO:probinson] 92 / 7739
11
(HPO:0002072) Chorea 53 / 7739
12
(HPO:0001347) Hyperreflexia 363 / 7739
13
(HPO:0001251) Ataxia 413 / 7739
14
(HPO:0002529) Neuronal loss in central nervous system 37 / 7739
15
(HPO:0001272) Cerebellar atrophy 197 / 7739
16
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
17
(HPO:0002171) Gliosis 48 / 7739
18
(OMIM) Neuronal loss and gliosis in caudate and putamen 2 / 7739
19
(OMIM) Oral motor dysfunction (juvenile form) 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (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. ...
Diagnosis OMIM - Prenatal Diagnosis

Harper and Sarfarazi (1985) pointed out that predictive testing can be done in prenatal diagnosis without determining the status of the at-risk parent. For example, if the affected grandparent of the fetus is ...

Clinical Description OMIM The classic signs of Huntington disease are progressive chorea, rigidity, and dementia. A characteristic atrophy of the caudate nucleus is seen radiographically. Typically, there is a prodromal phase of mild psychotic and behavioral symptoms which precedes frank chorea ...
Molecular genetics OMIM The Huntington's Disease Collaborative Research Group (1993) identified an expanded (CAG)n repeat on 1 allele of the HTT gene (613004.0001) in affected members from all of 75 HD families examined. The families came from a variety of ethnic ...
Population genetics OMIM Huntington disease has a frequency of 4 to 7 per 100,000 persons. Reed and Chandler (1958) estimated the frequency of recognized Huntington chorea in the Michigan lower peninsula to be about 4.12 x 10(-5) and the total frequency ...