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



Mendelian

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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 %

We have 93 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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