Dystonia 1, Torsion, Autosomal Dominant; Dyt1

Description

'Dystonia' describes a neurologic condition characterized by involuntary, sustained muscle contractions affecting one or more sites of the body; 'torsion' refers to the twisting nature of body movements observed in dystonia. Dystonia has been classified as primary (dystonia as the sole or major symptom) or secondary (a symptom of another disorder), and by age of onset, muscle groups affected, and mode of inheritance (Muller and Kupke, 1990; Nemeth, 2002).

Clinical Features

Top most frequent phenotypes and symptoms related to Dystonia 1, Torsion, Autosomal Dominant; Dyt1

  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Milia
  • Flexion contracture
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance
  • Tremor
And another 26 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

— Based on the latest data available Dystonia 1, Torsion, Autosomal Dominant; Dyt1 have a estimated prevalence of 0.4 per 100k worldwide.


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Dystonia 1, Torsion, Autosomal Dominant; Dyt1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Isolated Dystonia Evaluation.

By Athena Diagnostics Inc in United States.

TOR1A, THAP1
Specificity
50 %
Genes
100 %
Dystonia (DYT1) DNA Test.

By Athena Diagnostics Inc in United States.

TOR1A
Specificity
100 %
Genes
100 %
Early-Onset Primary Dystonia (TOR1A).

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital in United States.

TOR1A
Specificity
100 %
Genes
100 %
Early-Onset Primary Dystonia (DYT1) Test.

By Genetics Laboratory - Department of Pathology Rush University Medical Center in United States.

TOR1A
Specificity
100 %
Genes
100 %
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, TRIM32, POLG, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PARK7, PINK1, SQSTM1, TIMM8A, MMADHC, SUOX , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Early Onset Torsion Dystonia (DYT1).

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet in Denmark.

TOR1A
Specificity
100 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

AARS2, UQCRQ, ATP7B, AUH, BCS1L, PSEN1, GLB1, HPRT1, POLG, NDUFS4, AFG3L2, FOXRED1, NDUFAF2, PANK2, MECP2, NDUFA12, NDUFA9, TTC19, NDUFA10, SCP2 , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
TOR1A.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TOR1A
Specificity
100 %
Genes
100 %
Dystonia, early-onset.

By Molecular Diagnostic Laboratory University of Alberta in Canada.

TOR1A
Specificity
100 %
Genes
100 %
DYT1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TOR1A
Specificity
100 %
Genes
100 %
DYT1. GAG deletion detection by PCR.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

TOR1A
Specificity
100 %
Genes
100 %
Torsion dystonia (DYT1, sequence analysis of TOR1A gene).

By CGC Genetics in Portugal.

TOR1A
Specificity
100 %
Genes
100 %
Torsion dystonia (DYT1, GAG deletion on TOR1A gene).

By CGC Genetics in Portugal.

TOR1A
Specificity
100 %
Genes
100 %
Dystonia (NGS panel for 43 genes).

By CGC Genetics in Portugal.

ATP7B, AUH, PANK2, SMPD1, MECP2, SPR, TIMM8A, HEXA, GCDH, PRKN, PNKD, ARSA, NPC1, NPC2, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
DYSTONIA DYT1.

By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India.

TOR1A
Specificity
100 %
Genes
100 %
Dystonia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SPR, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, ATP1A3, PRRT2, TAF1, TUBB4A, PRKRA, ANO3, GNAL
Specificity
7 %
Genes
100 %
DYT1 Early-Onset Isolated Dystonia via TOR1A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TOR1A
Specificity
100 %
Genes
100 %
Dystonia, Early Onset Primary (DYT1).

By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada.

TOR1A
Specificity
100 %
Genes
100 %
TOR1A.

By MGZ Medical Genetics Center in Germany.

TOR1A
Specificity
100 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center in Germany.

MTHFR, TTR, UBE3A, AARS2, ABHD12, ACAD9, ACADM, ACADS, AGL, ACADVL, YARS2, PC, UQCRQ, ARG1, UQCRB, ATP5F1E, ATP7B, ATPAF2, AUH, BCKDHA , (...)

View the complete list with 577 more genes
Specificity
1 %
Genes
100 %
Early-Onset Primary Dystonia (DYT1).

By Bioscientia GmbH Center for Human Genetics in Germany.

TOR1A
Specificity
100 %
Genes
100 %
DYT1 - dystonia type 1.

By Centogene AG - the Rare Disease Company in Germany.

TOR1A
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Dystonia 1.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

TOR1A
Specificity
100 %
Genes
100 %
Early-Onset Primary Dystonia (DYT1).

By bio.logis Center for Human Genetics Diagnosticum in Germany.

TOR1A
Specificity
100 %
Genes
100 %
Primary Torsion Dystonia Panel.

By CeGaT GmbH in Germany.

ATM, TOR1A, THAP1, COL6A3, TUBB4A, ANO3, HPCA, GNAL, CIZ1
Specificity
12 %
Genes
100 %
Dystonia All Panel.

By CeGaT GmbH in Germany.

ATP7A, ATP7B, AUH, PANK2, MECP2, SPR, TIMM8A, HEXA, SLC25A15, GCDH, CYP27A1, PRKN, CLN3, PNKD, ARSA, ARX, NPC1, NPC2, SLC2A1, ATM , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Single gene testing TOR1A.

By CeGaT GmbH in Germany.

TOR1A
Specificity
100 %
Genes
100 %
TOR1A - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

TOR1A
Specificity
100 %
Genes
100 %
Torsion Dystonia DYT1.

By Medical Genetics Unit Sistemas Genómicos in Spain.

TOR1A
Specificity
100 %
Genes
100 %
Early-Onset Primary Dystonia (DYT1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

TOR1A
Specificity
100 %
Genes
100 %
Ashkenazi Jewish diseases.

By Asper Biogene Asper Biogene LLC in Estonia.

BRCA1, BRCA2, MSH2, MSH6, AGL, BCKDHB, CLRN1, PCDH15, DLD, SMPD1, DHDDS, FAM161A, G6PC, LCA5, HEXA, BBS2, MAK, ASPA, ELP1, CFTR , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Dystonia.

By Asper Biogene Asper Biogene LLC in Estonia.

ATP7B, PANK2, SPR, TIMM8A, GCDH, PRKN, PNKD, ARSA, SLC2A1, ATM, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, COL6A3, ATP1A3, KCNMA1, PRRT2 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Dystonia 01.

By Praxis fuer Humangenetik Wien in Austria.

TOR1A
Specificity
100 %
Genes
100 %
Invitae Dystonia Comprehensive Panel.

By Invitae in United States.

SPR, PRKN, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, ATP1A3, PRRT2, TUBB4A, SLC6A3, PRKRA, ANO3, GNAL
Specificity
7 %
Genes
100 %
Torsion dystonia, Early-Onset: TOR1A gene deletion analysis (c.907_909delGAG).

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

TOR1A
Specificity
100 %
Genes
100 %
DYSTONIA.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

PANK2, SPR, PRKN, SLC2A1, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, ATP1A3, TAF1, PRKRA
Specificity
8 %
Genes
100 %
Dystonia: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

PTEN, ATP7B, AUH, PSEN1, HPRT1, AFG3L2, FOXRED1, PANK2, SCP2, GAMT, SPR, SUCLA2, PINK1, TIMM8A, MMADHC, SUOX, PTS, QDPR, MPV17, SDHAF1 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Dystonia Dyskinesia NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

SCP2, SPR, PNKD, TOR1A, THAP1, SGCE, ATP1A3, PRRT2, TAF1, DRD5, MR1, DRD2, SLC6A3, PRKRA
Specificity
8 %
Genes
100 %
TOR1A.

By Fulgent Genetics Fulgent Genetics in United States.

TOR1A
Specificity
100 %
Genes
100 %
Dystonia Panel.

By Blueprint Genetics in Finland.

SPR, PNKD, SLC2A1, TH, TOR1A, THAP1, GCH1, SGCE, FA2H, ATP1A3, PRRT2, DCAF17, PRKRA, PDGFRB, PDGFB, KMT2B, ANO3, BCAP31, GNAL, ADCY5
Specificity
5 %
Genes
100 %
Early onset torsion dystonia.

By Bioarray in Spain.

TOR1A
Specificity
100 %
Genes
100 %
EARLY-ONSET PRIMARY DYSTONIA (DYT1).

By Laboratorio de Genetica Clinica SL in Spain.

TOR1A
Specificity
100 %
Genes
100 %
Early Onset Torsion Dystonia , Sequencing Exon 5 DYT1 Gene.

By Reference Laboratory Genetics in Spain.

TOR1A
Specificity
100 %
Genes
100 %
Dystonia and Related Disorders , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

PANK2, SPR, PRKN, SLC2A1, TH, PLA2G6, TOR1A, THAP1, GCH1, SGCE, ATP1A3, TAF1, PRKRA
Specificity
8 %
Genes
100 %
Myoclonus Dystonia , Panel Massive Sequencing (NGS) SGCE, TOR1A Genes.

By Reference Laboratory Genetics in Spain.

TOR1A, SGCE
Specificity
50 %
Genes
100 %
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes.

By Reference Laboratory Genetics in Spain.

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, DPM3, PNPLA2, DPM1, PHKA1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, PEX2, PEX7 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Dystonia 1.

By Labor Dr. Wisplinghoff in Germany.

TOR1A
Specificity
100 %
Genes
100 %
Dystonia: DYT1 gene sequencing.

By Foundation for Research In Genetics and Endocrinology and Institute of Human Genetics Institute of Human Genetics in India.

TOR1A
Specificity
100 %
Genes
100 %

Alternate names

Dystonia 1, Torsion, Autosomal Dominant; Dyt1 Is also known as dystonia musculorum deformans 1, early-onset torsion dystonia;eotd;dyt1; dystonia musculorum deformans; eotd; early-onset generalized torsion dystonia; early-onset primary dystonia; early-onset torsion dystonia; idiopathic dystonia; idiopathic torsion dystonia; oppenheim dystonia.



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