Infantile Dystonia-parkinsonism

Description

Infantile dystonia-parkinsonism (IPD) is an extremely rare inherited neurological syndrome that presents in early infancy with hypokinetic parkinsonism and dystonia and that can be fatal.

Clinical Features

Top most frequent phenotypes and symptoms related to Infantile Dystonia-parkinsonism

  • Global developmental delay
  • Generalized hypotonia
  • Cognitive impairment
  • Flexion contracture
  • Feeding difficulties
  • Tremor
  • Hypertonia
  • Dystonia
  • Absent speech
  • Constipation

And another 27 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

Infantile Dystonia-parkinsonism Is also known as dopamine transporter deficiency syndrome, ipd, pkdys, dtds.

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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Infantile Dystonia-parkinsonism Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 %
Dystonia Exome Panel.

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

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Parkinsonism-Dystonia, infantile (sequence analysis of SLC6A3 gene).

By CGC Genetics (Portugal).

SLC6A3
Specificity
100 %
Genes
100 %
Parkinson disease (NGS panel for 33 genes).

By CGC Genetics (Portugal).

SLC6A3, SNCA, SNCAIP, SNCB, SYNJ1, TAF1, TH, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, ATP6AP2, LRRK2, CSF1R, ADH1C, DCTN1 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Dystonia (NGS panel for 43 genes).

By CGC Genetics (Portugal).

SGCE, SLC2A1, SLC6A3, SMPD1, SPR, TAF1, TH, TIMM8A, ACTB, CACNA1B, ANO3, NPC2, PANK2, BCAP31, VPS13A, TUBB4A, THAP1, COL6A3, SLC30A10, KCTD17 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
Parkinson Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC6A3, SNCA, SPR, SYNJ1, TAF1, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, RAB39B, LRRK2, CHCHD2, VPS13C, ATP13A2, EIF4G1, GBA , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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