DJO
MCID: DYS162
MIFTS: 31

Dystonia, Juvenile-Onset (DJO)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Dystonia, Juvenile-Onset

MalaCards integrated aliases for Dystonia, Juvenile-Onset:

Name: Dystonia, Juvenile-Onset 57 20 72 13 39
Developmental Malformations-Deafness-Dystonia Syndrome 58 29 6
Juvenile-Onset Dystonia 20 36 70
Djo 57 72
Developmental Malformations-Hearing Loss-Dystonia Syndrome 58
Developmental Malformations-Deafness-Dystonia 72

Characteristics:

Orphanet epidemiological data:

58
developmental malformations-deafness-dystonia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset of dystonia at 12 years


HPO:

31
dystonia, juvenile-onset:
Onset and clinical course death in early adulthood
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


Summaries for Dystonia, Juvenile-Onset

GARD : 20 Juvenile-onset dystonia is a form of dystonia, which is a movement disorder characterized by involuntary muscle contractions that cause repetitive movements and/or abnormal postures. The severity and frequency of the movements vary significantly; in some affected people, they may be barely noticeable while in others, the movements are severely disabling and painful. Dystonia can affect just one muscle, a group of muscles or all muscles of the body. Other signs and symptoms of the condition may include a tremor or other neurologic features. In juvenile-onset dystonia, specifically, affected people develop features of the condition between the ages of 13 and 20 years. The underlying cause of juvenile-onset dystonia is poorly understood in most cases. Changes ( mutations ) in the ACTB gene that are inherited in an autosomal dominant manner have been identified in some families with the condition. Treatment is based on the signs and symptoms present in each person and may include medications, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain.

MalaCards based summary : Dystonia, Juvenile-Onset, also known as developmental malformations-deafness-dystonia syndrome, is related to dystonia and baraitser-winter cerebrofrontofacial syndrome. An important gene associated with Dystonia, Juvenile-Onset is ACTB (Actin Beta), and among its related pathways/superpathways are Phagosome and Focal adhesion. Affiliated tissues include eye and liver, and related phenotypes are intellectual disability and scoliosis

KEGG : 36 Juvenile-onset dystonia is a rare progressive neurodegenerative disorder with a primarily dystonic phenotype of juvenile onset, caused by a mutation in one of the major forms of nonmuscle actin gene, ACTB, which is associated with a broad spectrum of developmental malformations and/or neurological abnormalities such as dystonia.

UniProtKB/Swiss-Prot : 72 Dystonia, juvenile-onset: A form of dystonia with juvenile onset. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. Patients with juvenile-onset dystonia manifest progressive, generalized, dopa-unresponsive dystonia, developmental malformations and sensory hearing loss.

More information from OMIM: 607371

Related Diseases for Dystonia, Juvenile-Onset

Graphical network of the top 20 diseases related to Dystonia, Juvenile-Onset:



Diseases related to Dystonia, Juvenile-Onset

Symptoms & Phenotypes for Dystonia, Juvenile-Onset

Human phenotypes related to Dystonia, Juvenile-Onset:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
3 dysphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002015
4 kyphosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002808
5 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
6 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
7 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
8 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
9 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
10 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
11 achalasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002571
12 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
13 mental deterioration 58 31 hallmark (90%) Very frequent (99-80%) HP:0001268
14 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
15 oral cleft 58 31 hallmark (90%) Very frequent (99-80%) HP:0000202
16 generalized dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0007325
17 hypoplastic scapulae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000882
18 externally rotated hips 58 31 hallmark (90%) Very frequent (99-80%) HP:0008796
19 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
20 blindness 58 31 frequent (33%) Frequent (79-30%) HP:0000618
21 intellectual disability, mild 31 HP:0001256
22 cleft palate 31 HP:0000175
23 kyphoscoliosis 31 HP:0002751
24 cleft upper lip 31 HP:0000204
25 death in early adulthood 58 Very frequent (99-80%)
26 mild global developmental delay 31 HP:0011342
27 small for gestational age 31 HP:0001518

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft palate
cleft lip

Abdomen Gastrointestinal:
achalasia

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapulae

Head And Neck Eyes:
cataracts
limited vision

Growth Weight:
low birth weight

Growth Other:
small for age

Skeletal Spine:
kyphoscoliosis
antecolis

Head And Neck Head:
high forehead

Skeletal Pelvis:
externally rotated hips

Head And Neck Ears:
sensorineural hearing loss

Neurologic Central Nervous System:
developmental delay, mild
dystonia, generalized, dopa-unresponsive
subnormal cognition
actin depolymerizing factor/cofilin-immunoreactive eosinophilic rod-like cytoplasmic inclusions in neocortical and thalamic neurons
actin- and actin depolymerizing factor/cofilin-immunoreactive eosinophilic spherical structures in the striatum

Clinical features from OMIM®:

607371 (Updated 05-Apr-2021)

Drugs & Therapeutics for Dystonia, Juvenile-Onset

Search Clinical Trials , NIH Clinical Center for Dystonia, Juvenile-Onset

Genetic Tests for Dystonia, Juvenile-Onset

Genetic tests related to Dystonia, Juvenile-Onset:

# Genetic test Affiliating Genes
1 Developmental Malformations-Deafness-Dystonia Syndrome 29 ACTB

Anatomical Context for Dystonia, Juvenile-Onset

MalaCards organs/tissues related to Dystonia, Juvenile-Onset:

40
Eye, Liver

Publications for Dystonia, Juvenile-Onset

Articles related to Dystonia, Juvenile-Onset:

# Title Authors PMID Year
1
Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. 6 57 61
12325076 2002
2
A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 6 57
16685646 2006
3
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 6
22366783 2012
4
PLA2G6 accumulates in Lewy bodies in PARK14 and idiopathic Parkinson's disease. 61
28213071 2017
5
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. 61
28487785 2017
6
Molecular mechanisms of disease-related human β-actin mutations p.R183W and p.E364K. 61
25255767 2014
7
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. 61
22341971 2012
8
SPECT imaging of the dopamine transporter in juvenile-onset dystonia. 61
11160970 2001
9
Familial tremulous and myoclonic dystonia with white matter changes in brain magnetic resonance imaging. 61
7565837 1995
10
[Juvenile-onset dystonia with bilateral atrophy of the basal ganglia on MRI]. 61
1769149 1991

Variations for Dystonia, Juvenile-Onset

ClinVar genetic disease variations for Dystonia, Juvenile-Onset:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTB NM_001101.5(ACTB):c.547C>T (p.Arg183Trp) SNV Pathogenic 18275 rs104894003 GRCh37: 7:5568167-5568167
GRCh38: 7:5528536-5528536
2 ACTB NM_001101.5(ACTB):c.219C>G (p.His73Gln) SNV Likely pathogenic 620046 GRCh37: 7:5568936-5568936
GRCh38: 7:5529305-5529305
3 ACTB NM_001101.5(ACTB):c.491C>A (p.Pro164His) SNV Likely pathogenic 973260 GRCh37: 7:5568223-5568223
GRCh38: 7:5528592-5528592
4 ACTB NM_001101.5(ACTB):c.257G>A (p.Trp86Ter) SNV Uncertain significance 998240 GRCh37: 7:5568898-5568898
GRCh38: 7:5529267-5529267

UniProtKB/Swiss-Prot genetic disease variations for Dystonia, Juvenile-Onset:

72
# Symbol AA change Variation ID SNP ID
1 ACTB p.Arg183Trp VAR_030026 rs104894003

Expression for Dystonia, Juvenile-Onset

Search GEO for disease gene expression data for Dystonia, Juvenile-Onset.

Pathways for Dystonia, Juvenile-Onset

Pathways related to Dystonia, Juvenile-Onset according to KEGG:

36
# Name Kegg Source Accession
1 Phagosome hsa04145
2 Focal adhesion hsa04510
3 Adherens junction hsa04520
4 Tight junction hsa04530
5 Leukocyte transendothelial migration hsa04670
6 Regulation of actin cytoskeleton hsa04810

GO Terms for Dystonia, Juvenile-Onset

Sources for Dystonia, Juvenile-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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