Dystonia, Dopa-responsive; Drd

Clinical Features

Top most frequent phenotypes and symptoms related to Dystonia, Dopa-responsive; Drd

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity
  • Motor delay
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Gait disturbance

And another 58 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, DOPA-RESPONSIVE; DRD have a estimated prevalence of 0.5 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Dystonia, Dopa-responsive; Drd Is also known as dystonia, progressive, with diurnal variation, dystonia 5, segawa syndrome, autosomal dominant, dystonia, dopa-responsive, autosomal dominant, dopa-responsive dystonia, autosomal dominant, dystonia-parkinsonism with diurnal fluctuation, dyt5.

Researches and researchers

Doctors, researchs, and experts related to Dystonia, Dopa-responsive; Drd extracted from public data.

Dystonia, Dopa-responsive; Drd Experts map



Current Researchs and researchers

  • PARIS — Pr Marie VIDAILHET

    Coordinator of expert centre - Clinical expert - Principal investigator of clinical trial - Coordinator of research network

    • Institution/s:
      — Département de Neurologie - Pôle des Maladies du Système Nerveux, CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
    • Research area/topic::

      Réseau national des dystonies


Dystonia, Dopa-responsive; Drd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Complete Dopa-Responsive Dystonia (DYT5) Evaluation.

By Athena Diagnostics Inc (United States).

TH, GCH1
Specificity
50 %
Genes
100 %
GCH1 DNA Deletion Analysis (DYT5).

By Athena Diagnostics Inc (United States).

GCH1
Specificity
100 %
Genes
100 %
GCH1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

GCH1
Specificity
100 %
Genes
100 %
Dystonia.

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

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Epilepsy/Seizure.

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

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, SYN1, TSC1, TSC2, UBE3A, CNTNAP2, CACNA1A, CACNB4, ARHGEF9 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Infantile Epilepsy.

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

SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, ZEB2, LIAS, ARX, MAGI2 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Movement Disorders Panel.

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

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Parkinson's Disease.

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

SLC6A3, SNCA, TAF1, TH, VPS35, FBXO7, PINK1, PARK7, LRRK2, CSF1R, DCTN1, ATP13A2, GBA, GCH1, MAPT, ATP1A3, PRKN, PLA2G6, POLG
Specificity
6 %
Genes
100 %

You can get up to 93 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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