Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity

Description

Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

Clinical Features

Top most frequent phenotypes and symptoms related to Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance
  • Dystonia
  • Headache

And another 23 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

Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity Is also known as dyt9, cse choreoathetosis, paroxysmal, with episodic ataxia, episodic choreoathetosis/spasticity, choreoathetosis, kinesigenic, with episodic ataxia and spasticity, choreoathetosis/spasticity, episodic.

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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Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SLC2A1 Sequence Analysis.

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SLC2A1
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100 %
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100 %
SLC2A1 Sequence Analysis (Familial Mutation/Variant Analysis).

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SLC2A1
Specificity
100 %
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100 %
SLC2A1 Sequence Analysis (Prenatal Diagnosis).

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SLC2A1
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100 %
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Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

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Specificity
1 %
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Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC9A6, SIK1, SPTAN1, CDKL5, STXBP1, SYNGAP1, TCF4, TREX1, UBE3A, WWOX, CNTNAP2, CACNA2D1 , (...)

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Specificity
2 %
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Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine.

By Athena Diagnostics Inc (United States).

SCN1A, SLC2A1, CACNA1A, PRRT2, NOTCH3, ATP1A2, POLG
Specificity
15 %
Genes
100 %
Syndromic Autism Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)

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Specificity
2 %
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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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