Dentatorubral-pallidoluysian Atrophy; Drpla

Clinical Features

Top most frequent phenotypes and symptoms related to Dentatorubral-pallidoluysian Atrophy; Drpla

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Dysarthria
  • Cerebellar atrophy
  • Cerebral atrophy
  • Dilatation
  • Dementia
  • Myoclonus

And another 13 symptoms. If you need more information about this disease we can help you.

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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

Dentatorubral-pallidoluysian Atrophy; Drpla Is also known as hrs, ataxia, chorea, seizures, and dementia, haw river syndrome, nod, naito-oyanagi disease, myoclonic epilepsy with choreoathetosis.

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.


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Dentatorubral-pallidoluysian Atrophy; Drpla Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Chorea Differential Evaluation.

By Athena Diagnostics Inc (United States).

ATN1, HTT
Specificity
50 %
Genes
100 %
DRPLA (ATN1) Repeat Expansion Test.

By Athena Diagnostics Inc (United States).

ATN1
Specificity
100 %
Genes
100 %
Ataxia, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

SACS, ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, TTPA, VAMP1, CACNA1A, CACNB4, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, SYT14 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Ataxia, Complete Dominant Evaluation.

By Athena Diagnostics Inc (United States).

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, SLC1A3, SPTBN2, TBP, VAMP1, CACNA1A, CACNB4, TGM6, TTBK2, ATN1, AFG3L2, EEF2, FGF14, ITPR1, KCNA1, KCNC3 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Dentatorubral pallidoluysian atrophy.

By Center for Human Genetics, Inc (United States).

ATN1
Specificity
100 %
Genes
100 %
Dentatorubro-pallidoluysian atrophy.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

ATN1
Specificity
100 %
Genes
100 %
DRPLA - Dentatorubral-Pallidoluysian Atrophy.

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

ATN1
Specificity
100 %
Genes
100 %
Ataxia Repeat Expansion Panel.

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

ATXN1, ATXN10, ATXN2, ATXN7, ATXN8OS, TBP, CACNA1A, ATN1, FXN, ATXN3, PPP2R2B
Specificity
10 %
Genes
100 %

We have 23 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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