DYT4
MCID: DYS163
MIFTS: 27

Dystonia 4, Torsion, Autosomal Dominant (DYT4)

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

Aliases & Classifications for Dystonia 4, Torsion, Autosomal Dominant

MalaCards integrated aliases for Dystonia 4, Torsion, Autosomal Dominant:

Name: Dystonia 4, Torsion, Autosomal Dominant 57 75 73
Dyt4 57 53 59 75
Dystonia Musculorum Deformans 4 57 53 75
Hereditary Whispering Dysphonia 53 59 75
Autosomal Dominant Torsion Dystonia 4 29 6
Whispering Dysphonia, Hereditary 57 73
Dystonia, Type 4, Torsion, Autosomal Dominant 40
Autosomal Dominant Torsion Dystonia-4 53
Primary Dystonia, Dyt4 Type 59
Whispering Dysphonia 53
Dystonia-4 75

Characteristics:

Orphanet epidemiological data:

59
primary dystonia, dyt4 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset between 13 to 37 years
favorable response to alcohol
one large family has been reported (last curated june 2013)


HPO:

32
dystonia 4, torsion, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Dystonia 4, Torsion, Autosomal Dominant

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 98805Disease definitionDYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).EpidemiologySo far, the disease has been reported in one large Australian family.Clinical descriptionThe age of onset varies from 13 to 37 years. Some patients develop generalized dystonia and psychiatric symptoms.EtiologyThe locus for DYT4 remains unknown.Genetic counselingThe disease is transmitted in an autosomal dominant manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Dystonia 4, Torsion, Autosomal Dominant, also known as dyt4, is related to dystonia and neuronitis, and has symptoms including torticollis and dystonia, limb. An important gene associated with Dystonia 4, Torsion, Autosomal Dominant is TUBB4A (Tubulin Beta 4A Class IVa). Affiliated tissues include tongue, and related phenotypes are gait disturbance and dysphonia

OMIM : 57 Dystonia-4, also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait (summary by Hersheson et al., 2013). (128101)

UniProtKB/Swiss-Prot : 75 Dystonia 4, torsion, autosomal dominant: A form of torsion dystonia, a disease defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. 'Torsion' refers to the twisting nature of body movements, often affecting the trunk. DYT4 is characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait.

Related Diseases for Dystonia 4, Torsion, Autosomal Dominant

Diseases in the Dystonia 7, Torsion family:

Dystonia 1, Torsion, Autosomal Dominant Dystonia 4, Torsion, Autosomal Dominant
Dystonia 2, Torsion, Autosomal Recessive Torsion Dystonia with Onset in Infancy
Dystonia 6, Torsion Dystonia 13, Torsion, Autosomal Dominant
Dystonia 17, Torsion, Autosomal Recessive Torsion Dystonia 2
Torsion Dystonia 4 Torsion Dystonia 17

Diseases related to Dystonia 4, Torsion, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dystonia 9.9
2 neuronitis 9.9

Symptoms & Phenotypes for Dystonia 4, Torsion, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysphonia
generalized dystonia
torsion dystonia
limb dystonia
abnormal 'hobby horse' ataxic gait

Head And Neck Neck:
torticollis

Head And Neck Face:
thin face
hollowed cheeks

Respiratory Larynx:
laryngeal adductor spasmodic dysphonia

Abdomen Gastrointestinal:
dysphagia

Growth Other:
thin body habitus

Head And Neck Mouth:
bradykinetic tongue

Voice:
whispering dysphonia


Clinical features from OMIM:

128101

Human phenotypes related to Dystonia 4, Torsion, Autosomal Dominant:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
2 dysphonia 59 32 Very frequent (99-80%) HP:0001618
3 dysphagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002015
4 respiratory distress 59 32 occasional (7.5%) Occasional (29-5%) HP:0002098
5 dementia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000726
6 open mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000194
7 dysdiadochokinesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002075
8 blepharospasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0000643
9 torticollis 59 32 frequent (33%) Frequent (79-30%) HP:0000473
10 generalized dystonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0007325
11 kyphoscoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002751
12 sunken cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0009938
13 eunuchoid habitus 59 32 frequent (33%) Frequent (79-30%) HP:0003782
14 movement abnormality of the tongue 59 32 frequent (33%) Frequent (79-30%) HP:0000182
15 laryngeal dystonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0012049
16 upper limb postural tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0007351
17 gait ataxia 32 HP:0002066
18 narrow face 32 HP:0000275
19 involuntary movements 59 Occasional (29-5%)
20 torsion dystonia 32 HP:0001304
21 limb dystonia 32 HP:0002451

UMLS symptoms related to Dystonia 4, Torsion, Autosomal Dominant:


torticollis, dystonia, limb

Drugs & Therapeutics for Dystonia 4, Torsion, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Dystonia 4, Torsion, Autosomal Dominant

Genetic Tests for Dystonia 4, Torsion, Autosomal Dominant

Genetic tests related to Dystonia 4, Torsion, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Autosomal Dominant Torsion Dystonia 4 29 TUBB4A

Anatomical Context for Dystonia 4, Torsion, Autosomal Dominant

MalaCards organs/tissues related to Dystonia 4, Torsion, Autosomal Dominant:

41
Tongue

Publications for Dystonia 4, Torsion, Autosomal Dominant

Articles related to Dystonia 4, Torsion, Autosomal Dominant:

# Title Authors Year
1
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. ( 23595291 )
2013
2
Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. ( 21956287 )
2011

Variations for Dystonia 4, Torsion, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Dystonia 4, Torsion, Autosomal Dominant:

75
# Symbol AA change Variation ID SNP ID
1 TUBB4A p.Arg2Gly VAR_069798 rs587776983

ClinVar genetic disease variations for Dystonia 4, Torsion, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TUBB4A NM_006087.3(TUBB4A): c.4C> G (p.Arg2Gly) single nucleotide variant Pathogenic rs587776983 GRCh37 Chromosome 19, 6502220: 6502220
2 TUBB4A NM_006087.3(TUBB4A): c.4C> G (p.Arg2Gly) single nucleotide variant Pathogenic rs587776983 GRCh38 Chromosome 19, 6502209: 6502209
3 TUBB4A NM_001289123.1(TUBB4A): c.964G> A (p.Ala322Thr) single nucleotide variant Pathogenic rs587777074 GRCh37 Chromosome 19, 6495699: 6495699
4 TUBB4A NM_001289123.1(TUBB4A): c.964G> A (p.Ala322Thr) single nucleotide variant Pathogenic rs587777074 GRCh38 Chromosome 19, 6495688: 6495688

Expression for Dystonia 4, Torsion, Autosomal Dominant

Search GEO for disease gene expression data for Dystonia 4, Torsion, Autosomal Dominant.

Pathways for Dystonia 4, Torsion, Autosomal Dominant

GO Terms for Dystonia 4, Torsion, Autosomal Dominant

Sources for Dystonia 4, Torsion, Autosomal Dominant

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
Content
Loading form....