MCID: DYS162
MIFTS: 27

Dystonia, Juvenile-Onset

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Fetal diseases, Muscle diseases

Aliases & Classifications for Dystonia, Juvenile-Onset

MalaCards integrated aliases for Dystonia, Juvenile-Onset:

Name: Dystonia, Juvenile-Onset 57 53 75 13 40
Juvenile-Onset Dystonia 53 37 29 6 73
Djo 57 75
Developmental Malformations-Deafness-Dystonia Syndrome 59
Developmental Malformations-Deafness-Dystonia 75

Characteristics:

Orphanet epidemiological data:

59
developmental malformations-deafness-dystonia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent; Age of death: adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of dystonia at 12 years


HPO:

32
dystonia, juvenile-onset:
Mortality/Aging death in early adulthood
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Dystonia, Juvenile-Onset

NIH Rare Diseases : 53 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 juvenile-onset dystonia, is related to dystonia and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Dystonia, Juvenile-Onset is ACTB (Actin Beta), and among its related pathways/superpathways are Phagosome and Focal adhesion. Related phenotypes are hypertelorism and intellectual disability

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 607371

Related Diseases for Dystonia, Juvenile-Onset

Diseases in the Dystonia family:

Dystonia 12 Dystonia 9
Dystonia, Juvenile-Onset Dystonia 16
Dystonia 21 Dystonia 23
Dystonia 24 Dystonia 25
Dystonia 27 Hereditary Dystonia
Kmt2b-Related Dystonia

Diseases related to Dystonia, Juvenile-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dystonia 10.1
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9

Symptoms & Phenotypes for Dystonia, Juvenile-Onset

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Head:
high forehead

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

Abdomen Gastrointestinal:
achalasia

Skeletal Spine:
kyphoscoliosis
antecolis

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

Human phenotypes related to Dystonia, Juvenile-Onset:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 dysphagia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002015
4 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
5 kyphosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002808
6 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
7 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
8 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
9 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 blindness 59 32 frequent (33%) Frequent (79-30%) HP:0000618
12 immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002721
13 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
14 achalasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002571
15 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
16 mental deterioration 59 32 hallmark (90%) Very frequent (99-80%) HP:0001268
17 oral cleft 59 32 hallmark (90%) Very frequent (99-80%) HP:0000202
18 generalized dystonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007325
19 hypoplastic scapulae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000882
20 externally rotated hips 59 32 hallmark (90%) Very frequent (99-80%) HP:0008796
21 intellectual disability, mild 32 HP:0001256
22 cleft palate 32 HP:0000175
23 death in early adulthood 59 Very frequent (99-80%)
24 cleft upper lip 32 HP:0000204
25 mild global developmental delay 32 HP:0011342
26 kyphoscoliosis 32 HP:0002751
27 small for gestational age 32 HP:0001518

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 Juvenile-Onset Dystonia 29 ACTB

Anatomical Context for Dystonia, Juvenile-Onset

Publications for Dystonia, Juvenile-Onset

Articles related to Dystonia, Juvenile-Onset:

# Title Authors Year
1
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline Malformation. ( 28487785 )
2017
2
Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. ( 12325076 )
2002
3
SPECT imaging of the dopamine transporter in juvenile-onset dystonia. ( 11160970 )
2001

Variations for Dystonia, Juvenile-Onset

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

75
# Symbol AA change Variation ID SNP ID
1 ACTB p.Arg183Trp VAR_030026 rs104894003

ClinVar genetic disease variations for Dystonia, Juvenile-Onset:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTB NM_001101.4(ACTB): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894003 GRCh37 Chromosome 7, 5568167: 5568167
2 ACTB NM_001101.4(ACTB): c.547C> T (p.Arg183Trp) single nucleotide variant Pathogenic/Likely pathogenic rs104894003 GRCh38 Chromosome 7, 5528536: 5528536

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:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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