DYT4
MCID: DYS163
MIFTS: 25

Dystonia 4, Torsion, Autosomal Dominant (DYT4)

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

Aliases & Classifications for Dystonia 4, Torsion, Autosomal Dominant

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

Name: Dystonia 4, Torsion, Autosomal Dominant 58 76 74
Dyt4 58 60 76
Whispering Dysphonia, Hereditary 58 74
Dystonia Musculorum Deformans 4 58 76
Hereditary Whispering Dysphonia 60 76
Primary Dystonia, Dyt4 Type 60
Dystonia-4 76

Characteristics:

Orphanet epidemiological data:

60
primary dystonia, dyt4 type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

58
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:

33
dystonia 4, torsion, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Dystonia 4, Torsion, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Dystonia 4, Torsion, Autosomal Dominant, also known as dyt4, is related to dyt-tubb4a and dystonia, 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 cerebellum, and related phenotypes are generalized dystonia and laryngeal dystonia

OMIM : 58 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)

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 dyt-tubb4a 11.9
2 dystonia 10.2

Symptoms & Phenotypes for Dystonia 4, Torsion, Autosomal Dominant

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

60 33 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized dystonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0007325
2 laryngeal dystonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0012049
3 gait disturbance 60 33 frequent (33%) Frequent (79-30%) HP:0001288
4 open mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000194
5 torticollis 60 33 frequent (33%) Frequent (79-30%) HP:0000473
6 sunken cheeks 60 33 frequent (33%) Frequent (79-30%) HP:0009938
7 eunuchoid habitus 60 33 frequent (33%) Frequent (79-30%) HP:0003782
8 movement abnormality of the tongue 60 33 frequent (33%) Frequent (79-30%) HP:0000182
9 dysphagia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002015
10 respiratory distress 60 33 occasional (7.5%) Occasional (29-5%) HP:0002098
11 kyphoscoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002751
12 dementia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000726
13 dysdiadochokinesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002075
14 blepharospasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0000643
15 upper limb postural tremor 60 33 occasional (7.5%) Occasional (29-5%) HP:0007351
16 dysphonia 60 33 Very frequent (99-80%) HP:0001618
17 gait ataxia 33 HP:0002066
18 narrow face 33 HP:0000275
19 involuntary movements 60 Occasional (29-5%)
20 torsion dystonia 33 HP:0001304
21 limb dystonia 33 HP:0002451

Symptoms via clinical synopsis from OMIM:

58
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

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

Anatomical Context for Dystonia 4, Torsion, Autosomal Dominant

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

42
Tongue, Cerebellum

Publications for Dystonia 4, Torsion, Autosomal Dominant

Articles related to Dystonia 4, Torsion, Autosomal Dominant:

# Title Authors Year
1
De Novo mutations in the β-tubulin gene TUBB4: from DYT4 to leukoencephalopathy with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). ( 24013879 )
2013

Variations for Dystonia 4, Torsion, Autosomal Dominant

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

76
# 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

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10 dbSNP
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17 EFO
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29 GO
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31 HGMD
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35 ICD10 via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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