Primary Dystonia, Dyt4 Type

Description

DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).

Clinical Features

Top most frequent phenotypes and symptoms related to Primary Dystonia, Dyt4 Type

  • Gait disturbance
  • Dysphagia
  • Respiratory distress
  • Dystonia
  • Dementia
  • Gait ataxia
  • Kyphoscoliosis
  • Open mouth
  • Involuntary movements
  • Narrow face

And another 14 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Primary Dystonia, Dyt4 Type Is also known as dystonia musculorum deformans 4, whispering dysphonia, hereditary, dyt4, hereditary whispering dysphonia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Primary Dystonia, Dyt4 Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Cerebral Cortical Malformation Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Cerebral Cortical Malformations Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
TUBB4A.

By Institute for Human Genetics University Clinic Freiburg (Germany).

TUBB4A
Specificity
100 %
Genes
100 %
HYPOMYELINATING LEUKODYSTROPHY 6 (HLD6).

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children (United States).

TUBB4A
Specificity
100 %
Genes
100 %
Torsion dystonia 4 (DYT4, sequence analysis of TUBB4A gene).

By CGC Genetics (Portugal).

TUBB4A
Specificity
100 %
Genes
100 %

We have 38 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VOHWINKEL SYNDROME, VARIANT FORM MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2; MC3DN2 LACTASE DEFICIENCY, CONGENITAL NAIL-PATELLA-LIKE RENAL DISEASE CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more