Dystonia 11, Myoclonic; Dyt11

Description

Myoclonus-dystonia is a genetically heterogeneous disorder characterized by myoclonic jerks affecting mostly proximal muscles. Dystonia, usually torticollis or writer's cramp, is observed in most patients, but occasionally can be the only symptom of the disorder. Onset of the disorder is usually in the first or second decade. Symptoms often respond to alcohol, and patients may also have psychiatric abnormalities (Valente et al., 2003; Schule et al., 2004).

Clinical Features

Top most frequent phenotypes and symptoms related to Dystonia 11, Myoclonic; Dyt11

  • Seizures
  • Generalized hypotonia
  • Pica
  • Milia
  • Cognitive impairment
  • Tremor
  • Dystonia
  • Behavioral abnormality
  • Depressivity
  • Myoclonus
And another 21 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Dystonia 11, Myoclonic; Dyt11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CASD1.

By Fulgent Genetics Fulgent Genetics in United States.

CASD1
Specificity
100 %
Genes
17 %
SGCE Deletion Analysis (DYT11).

By Athena Diagnostics Inc in United States.

SGCE
Specificity
100 %
Genes
17 %
SGCE Sequencing Test (DYT11).

By Athena Diagnostics Inc in United States.

SGCE
Specificity
100 %
Genes
17 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ATP7A, TWNK, GAA, GNE, TRIM32, POLG, SLC25A4, GARS, RRM2B, CRYAB, VCP, AGK, CAVIN1, DPM3, SUCLA2, PNPLA2, REEP1, POLG2, TK2, DPM1 , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
17 %
Comprehensive Neuromuscular Panel.

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

GAA, GNE, TRIM32, CRYAB, VCP, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
17 %
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
4 %
Genes
50 %
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
4 %
Genes
50 %
SGCE Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SGCE
Specificity
100 %
Genes
17 %
SGCE Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

SGCE
Specificity
100 %
Genes
17 %
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
2 %
Genes
50 %
Myoclonus Dystonia.

By Molecular Genetics Laboratory - Diagnostics Genetics LabPLUS - Auckland City Hospital in New Zealand.

SGCE
Specificity
100 %
Genes
17 %
SGCE.

By Institute for Human Genetics University Clinic Freiburg in Germany.

SGCE
Specificity
100 %
Genes
17 %
Silver-Russel Syndrome (UPD7).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

SGCE, GRB10, MEST
Specificity
34 %
Genes
17 %
SGCE. Sequencing of the exons 1, 2, 3, 4, 5, 6, 7 and 9.

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

SGCE
Specificity
100 %
Genes
17 %
SGCE. Complete sequencing.

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

SGCE
Specificity
100 %
Genes
17 %
Myoclonus-Dystonia (deletion/duplication analysis of SGCE gene).

By CGC Genetics in Portugal.

SGCE
Specificity
100 %
Genes
17 %
Myoclonus-Dystonia (sequence analysis of SGCE gene).

By CGC Genetics in Portugal.

SGCE
Specificity
100 %
Genes
17 %
Sarcoglycanopathies (NGS panel for 5 genes).

By CGC Genetics in Portugal.

SGCA, SGCB, SGCG, SGCE, SGCD
Specificity
20 %
Genes
17 %
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
10 %
Genes
67 %
Myoclonus Dystonia.

By Mersey Regional Genetics Laboratories Liverpool Women's Hospital in United Kingdom.

SGCE
Specificity
100 %
Genes
17 %
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
14 %
Genes
34 %
Myoclonus-Dystonia Syndrome via SGCE Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SGCE
Specificity
100 %
Genes
17 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
17 %
SGCE.

By MGZ Medical Genetics Center in Germany.

SGCE
Specificity
100 %
Genes
17 %
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
50 %
Epileptic Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, AMACR, POLG, PANK2, MECP2, GAMT, STXBP1, SLC25A22, GLDC, HEXA, HEXB, ALDH7A1, TPP1, CLN3, ARX, CDKL5, FOXG1, MEF2C, NPC1, NPC2 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
17 %
Progressive Myoclonic Epilepsy.

By MGZ Medical Genetics Center in Germany.

POLG, GLDC, HEXA, HEXB, TPP1, CLN3, NPC1, NPC2, CLN6, PPT1, CLN5, CSTB, SGCE, CASR, CACNB4, EFHC1, GOSR2, NHLRC1, KCTD7, PRICKLE1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
17 %
Epilepsy and Mitochondrial Encephalopathy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2, MTO1 , (...)

View the complete list with 166 more genes
Specificity
1 %
Genes
17 %
Brain Malformations / Neuronal Migration Disorders.

By MGZ Medical Genetics Center in Germany.

FMR1, UBE3A, PTEN, APP, TUBB3, HSD17B10, HPRT1, PANK2, FH, MECP2, GAMT, STXBP1, TUBA1A, SLC25A22, GLDC, GK, MAOA, ACSL4, SLC9A6, ALDH7A1 , (...)

View the complete list with 246 more genes
Specificity
1 %
Genes
17 %
Epilepsy.

By MGZ Medical Genetics Center in Germany.

UBE3A, YARS2, PC, UQCRQ, UQCRB, SDHAF2, AMACR, OPA1, TRMU, WFS1, POLG, NDUFS4, SLC25A19, SLC25A4, FOXRED1, RRM2B, NDUFAF2, SDHC, PANK2, MECP2 , (...)

View the complete list with 192 more genes
Specificity
1 %
Genes
17 %
Limb Girdle Muscular Dystrophy Autosomal Recessive Panel.

By FirmaLab in United States.

TRIM32, SGCA, SGCB, SGCG, CAPN3, FKRP, DYSF, SGCE, TTN, ANO5, TCAP
Specificity
10 %
Genes
17 %
DYT11 - myoclonus-dystonia.

By Centogene AG - the Rare Disease Company in Germany.

SGCE
Specificity
100 %
Genes
17 %
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
50 %
Dystonia Plus Syndrome Panel.

By CeGaT GmbH in Germany.

SPR, TH, GCH1, SGCE, ATP1A3, RELN, TAF1, KIF1C, TUBB4A, FTL, PRKRA, COX20, BCAP31, SLC30A10
Specificity
8 %
Genes
17 %
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
6 %
Genes
50 %
Single gene testing SGCE.

By CeGaT GmbH in Germany.

SGCE
Specificity
100 %
Genes
17 %
SGCE - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

SGCE
Specificity
100 %
Genes
17 %
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
11 %
Genes
67 %
Myoclonus-dystonia, SGCE sequencing.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

SGCE
Specificity
100 %
Genes
17 %
Dystonia 11.

By Praxis fuer Humangenetik Wien in Austria.

SGCE
Specificity
100 %
Genes
17 %
Dystonia 11.

By MedGene in Slovakia.

SGCE
Specificity
100 %
Genes
17 %
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
13 %
Genes
34 %
Invitae Epilepsy Panel.

By Invitae in United States.

UBE3A, ADSL, POLG, MECP2, LIAS, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, TPP1, CLN3, WWOX, PNKD, SLC6A8, ARX, CDKL5 , (...)

View the complete list with 105 more genes
Specificity
1 %
Genes
17 %
Myoclonic dystonia: SGCE gene sequence analysis (exons 1-7, 9).

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

SGCE
Specificity
100 %
Genes
17 %
Myoclonus dystonia: SGCE gene sequence analysis (remain exons).

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

SGCE
Specificity
100 %
Genes
17 %
Myoclonic dystonia: SGCE gene sequence analysis.

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

SGCE
Specificity
100 %
Genes
17 %
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
16 %
Genes
34 %
Myoclonus-Dystonia: SGCE Full Gene Sequencing.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SGCE
Specificity
100 %
Genes
17 %
Myoclonus-Dystonia: SGCE Gene Deletion/Duplication.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

SGCE
Specificity
100 %
Genes
17 %
Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, PYGM, PMM2, DMD, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
17 %
Expanded Neuromuscular Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 58 more genes
Specificity
2 %
Genes
17 %
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
4 %
Genes
50 %
Expanded Neuromuscular Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

GAA, GNE, TRIM32, CRYAB, CAVIN1, CHAT, PYGM, PMM2, DMD, CHRNE, DOK7, FKTN, NEB, SGCA, SGCB, POMGNT1, SGCG, CAPN3, RAPSN, DNM2 , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
17 %
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
22 %
Genes
50 %
Neuromuscular NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

TRIM32, PMM2, DMD, FKTN, NEB, PEX2, SGCA, SGCB, PEX1, POMGNT1, SGCG, CAPN3, LMNA, FKRP, CAV3, DYSF, SGCE, TTN, DES, ANO5 , (...)

View the complete list with 30 more genes
Specificity
2 %
Genes
17 %
SGCE.

By Fulgent Genetics Fulgent Genetics in United States.

SGCE
Specificity
100 %
Genes
17 %
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
10 %
Genes
34 %
Myoclonic dystonia 11.

By Bioarray in Spain.

SGCE
Specificity
100 %
Genes
17 %
Rapid microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
17 %
High-Resolution Rapid Microarray (CGH and SNP).

By Allele Diagnostics Allele Diagnostics in United States.

FMR1, UBE3A, VHL, APC, PTEN, TP53, USH1C, ATP7A, FOXL2, HBB, EYA1, OCA2, WT1, PAX6, CHM, RB1, HNF1B, RET, ELN, OCRL , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
17 %
DYSTONIA, L-DOPA-RESPONSIVE (TYROSINE HYDROXYLASE DEFICIENCY).

By Laboratorio de Genetica Clinica SL in Spain.

TH, GCH1, SGCE
Specificity
34 %
Genes
17 %
MYOCLONUS DYSTONIA (DYT11).

By Laboratorio de Genetica Clinica SL in Spain.

GCH1, SGCE
Specificity
50 %
Genes
17 %
Dystonia 11.

By LifeLabs Genetics in Canada.

SGCE
Specificity
100 %
Genes
17 %
Myoclonus Dystonia , Sequencing SGCE Gene.

By Reference Laboratory Genetics in Spain.

SGCE
Specificity
100 %
Genes
17 %
Myoclonus Dystonia, Sequencing Rest Exons SGCE / DYT11 Gene.

By Reference Laboratory Genetics in Spain.

SGCE
Specificity
100 %
Genes
17 %
Myoclonus Dystonia, Sequencing Exons (1-7, 9) SGCE / DYT11 Gene.

By Reference Laboratory Genetics in Spain.

SGCE
Specificity
100 %
Genes
17 %
Myoclonus Dystonia , Deletions-Duplications (MLPA) SGCE Gene.

By Reference Laboratory Genetics in Spain.

SGCE
Specificity
100 %
Genes
17 %
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
16 %
Genes
34 %
Myoclonus Dystonia , Panel Massive Sequencing (NGS) SGCE, TOR1A Genes.

By Reference Laboratory Genetics in Spain.

TOR1A, SGCE
Specificity
100 %
Genes
34 %
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
2 %
Genes
34 %
Sarcoglycanopathies , Panel Massive Sequencing (NGS) 5 Genes.

By Reference Laboratory Genetics in Spain.

SGCA, SGCB, SGCG, SGCE, SGCD
Specificity
20 %
Genes
17 %
DYT26, myoclonic.

By Centogene AG - the Rare Disease Company in Germany.

KCTD17
Specificity
100 %
Genes
17 %
Single gene testing KCTD17.

By CeGaT GmbH in Germany.

KCTD17
Specificity
100 %
Genes
17 %
DRD2. Complete sequencing.

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

DRD2
Specificity
100 %
Genes
17 %
DRD2. Detection of the mutation c.835_839delACAAA by sequencing.

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

DRD2
Specificity
100 %
Genes
17 %
Myoclonus-Dystonia (sequence analysis of DRD2 gene).

By CGC Genetics in Portugal.

DRD2
Specificity
100 %
Genes
17 %
DYT11.

By Centogene AG - the Rare Disease Company in Germany.

DRD2
Specificity
100 %
Genes
17 %
Myoclonic dystonia.

By Centogene AG - the Rare Disease Company in Germany.

DRD2
Specificity
100 %
Genes
17 %
Single gene testing DRD2.

By CeGaT GmbH in Germany.

DRD2
Specificity
100 %
Genes
17 %
DRD2.

By Fulgent Genetics Fulgent Genetics in United States.

DRD2
Specificity
100 %
Genes
17 %
Myoclonic dystonia 11.

By Bioarray in Spain.

DRD2
Specificity
100 %
Genes
17 %
Genecept Assay™.

By Genomind Genomind, Inc in United States.

MTHFR, COMT, MC4R, CACNA1C, CYP2C19, CYP2D6, SLC6A4, BDNF, DRD2, ADRA2A, ANK3, CYP2C9, CYP1A2, CYP3A5, CYP2B6, OPRM1, HTR2C, GRIK1
Specificity
6 %
Genes
17 %
OneOme RightMed comprehensive test.

By OneOme in United States.

F2, F5, COMT, UGT1A1, DPYD, CYP2C19, CYP2D6, SLC6A4, DRD2, TPMT, VKORC1, SLCO1B1, CYP2C9, HLA-B, CYP1A2, IFNL3, CYP3A4, CYP4F2, CYP3A5, CYP2B6 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
17 %
Rxight Pharmacogenetics Program.

By MD Labs MD Labs in United States.

MTHFR, COMT, DPYD, CYP2C19, CYP2D6, DRD2, ADRA2A, TPMT, VKORC1, SLCO1B1, CYP2C9, CYP3A4, CYP3A5, CYP2B6, OPRM1, HTR2C, GRIK4, CYP2C8, ANKK1, UGT2B15
Specificity
5 %
Genes
17 %
DRD2 genotyping.

By Alpha Genomix Laboratories in United States.

DRD2
Specificity
100 %
Genes
17 %
Methadone response.

By Xcode Life Xcode Life in India.

DRD2, CYP3A4, CYP2B6, OPRM1
Specificity
25 %
Genes
17 %
Risperidone response.

By Xcode Life Xcode Life in India.

CYP2D6, DRD2, HTR2C, ANKK1
Specificity
25 %
Genes
17 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
17 %
Isolated Dystonia Evaluation.

By Athena Diagnostics Inc in United States.

TOR1A, THAP1
Specificity
50 %
Genes
17 %
Dystonia (DYT1) DNA Test.

By Athena Diagnostics Inc in United States.

TOR1A
Specificity
100 %
Genes
17 %
Early-Onset Primary Dystonia (TOR1A).

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

TOR1A
Specificity
100 %
Genes
17 %
Early-Onset Primary Dystonia (DYT1) Test.

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

TOR1A
Specificity
100 %
Genes
17 %
Early Onset Torsion Dystonia (DYT1).

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

TOR1A
Specificity
100 %
Genes
17 %
TOR1A.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TOR1A
Specificity
100 %
Genes
17 %
Dystonia, early-onset.

By Molecular Diagnostic Laboratory University of Alberta in Canada.

TOR1A
Specificity
100 %
Genes
17 %
DYT1. Complete sequencing.

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

TOR1A
Specificity
100 %
Genes
17 %
DYT1. GAG deletion detection by PCR.

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

TOR1A
Specificity
100 %
Genes
17 %
Torsion dystonia (DYT1, sequence analysis of TOR1A gene).

By CGC Genetics in Portugal.

TOR1A
Specificity
100 %
Genes
17 %
Torsion dystonia (DYT1, GAG deletion on TOR1A gene).

By CGC Genetics in Portugal.

TOR1A
Specificity
100 %
Genes
17 %
DYSTONIA DYT1.

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

TOR1A
Specificity
100 %
Genes
17 %
DYT1 Early-Onset Isolated Dystonia via TOR1A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

TOR1A
Specificity
100 %
Genes
17 %
Dystonia, Early Onset Primary (DYT1).

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

TOR1A
Specificity
100 %
Genes
17 %
TOR1A.

By MGZ Medical Genetics Center in Germany.

TOR1A
Specificity
100 %
Genes
17 %
Early-Onset Primary Dystonia (DYT1).

By Bioscientia GmbH Center for Human Genetics in Germany.

TOR1A
Specificity
100 %
Genes
17 %
DYT1 - dystonia type 1.

By Centogene AG - the Rare Disease Company in Germany.

TOR1A
Specificity
100 %
Genes
17 %
Dystonia 1.

By Medical Genetics Laboratory Diagenom GmbH in Germany.

TOR1A
Specificity
100 %
Genes
17 %
Early-Onset Primary Dystonia (DYT1).

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

TOR1A
Specificity
100 %
Genes
17 %
Primary Torsion Dystonia Panel.

By CeGaT GmbH in Germany.

ATM, TOR1A, THAP1, COL6A3, TUBB4A, ANO3, HPCA, GNAL, CIZ1
Specificity
12 %
Genes
17 %
Single gene testing TOR1A.

By CeGaT GmbH in Germany.

TOR1A
Specificity
100 %
Genes
17 %
TOR1A - Gene sequencing.

By Clinical Genetics Academic Medical Center in Netherlands.

TOR1A
Specificity
100 %
Genes
17 %
Torsion Dystonia DYT1.

By Medical Genetics Unit Sistemas Genómicos in Spain.

TOR1A
Specificity
100 %
Genes
17 %
Early-Onset Primary Dystonia (DYT1).

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

TOR1A
Specificity
100 %
Genes
17 %
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
17 %
Dystonia 01.

By Praxis fuer Humangenetik Wien in Austria.

TOR1A
Specificity
100 %
Genes
17 %
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
17 %
TOR1A.

By Fulgent Genetics Fulgent Genetics in United States.

TOR1A
Specificity
100 %
Genes
17 %
Early onset torsion dystonia.

By Bioarray in Spain.

TOR1A
Specificity
100 %
Genes
17 %
EARLY-ONSET PRIMARY DYSTONIA (DYT1).

By Laboratorio de Genetica Clinica SL in Spain.

TOR1A
Specificity
100 %
Genes
17 %
Early Onset Torsion Dystonia , Sequencing Exon 5 DYT1 Gene.

By Reference Laboratory Genetics in Spain.

TOR1A
Specificity
100 %
Genes
17 %
Dystonia 1.

By Labor Dr. Wisplinghoff in Germany.

TOR1A
Specificity
100 %
Genes
17 %
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
17 %

Alternate names

Dystonia 11, Myoclonic; Dyt11 Is also known as myoclonus-dystonia syndrome, myoclonic dystonia, dystonia, alcohol-responsive, myoclonus, hereditary essential;alcohol-responsive dystonia; hereditary essential myoclonus; myoclonic dystonia.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1 LÉRI-WEILL DYSCHONDROSTEOSIS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more