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Parkinsonism-dystonia, infantile(DTDS)

MedGen UID:
413468
•Concept ID:
C2751067
•
Disease or Syndrome
Synonym: Parkinsonism-Dystonia, Infantile
SNOMED CT: Dopamine transporter deficiency syndrome (722763000); Infantile dystonia parkinsonism (722763000); Parkinsonism-dystonia infantile (722763000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Related genes: WARS2, SLC18A2, SLC6A3
 
Monarch Initiative: MONDO:0013150
OMIM®: 613135
OMIM® Phenotypic series: PS613135
Orphanet: ORPHA238455

Definition

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. [from NCBI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Parkinsonism-dystonia, infantile in Orphanet.

Professional guidelines

PubMed

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Wassenberg T, Molero-Luis M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M, Opladen T
Orphanet J Rare Dis 2017 Jan 18;12(1):12. doi: 10.1186/s13023-016-0522-z. PMID: 28100251Free PMC Article

Recent clinical studies

Etiology

A case report of infantile parkinsonism-dystonia-2 caused by homozygous mutation in the SLC18A2 gene.
Zhai H, Zheng Y, He Y, Zhang Y, Guo Z, Cui W, Sun L
Int J Neurosci 2023 May;133(5):574-577. Epub 2021 Jun 24 doi: 10.1080/00207454.2021.1938036. PMID: 34078222

Diagnosis

A case report of infantile parkinsonism-dystonia-2 caused by homozygous mutation in the SLC18A2 gene.
Zhai H, Zheng Y, He Y, Zhang Y, Guo Z, Cui W, Sun L
Int J Neurosci 2023 May;133(5):574-577. Epub 2021 Jun 24 doi: 10.1080/00207454.2021.1938036. PMID: 34078222
Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family.
Heidari E, Razmara E, Hosseinpour S, Tavasoli AR, Garshasbi M
Ann Hum Genet 2020 Jul;84(4):315-323. Epub 2020 Feb 20 doi: 10.1111/ahg.12378. PMID: 32077500

Therapy

Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases.
Ng J, Barral S, Waddington SN, Kurian MA
Mov Disord 2023 Jun;38(6):924-936. Epub 2023 May 5 doi: 10.1002/mds.29416. PMID: 37147851Free PMC Article

Prognosis

Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.
Reid KM, Steel D, Nair S, Bhate S, Biassoni L, Sudhakar S, Heys M, Burke E, Kamsteeg EJ, Genomics England Research Consortium, Hameed B, Zech M, Mencacci NE, Barwick K, Topf M, Kurian MA
Cells 2023 Mar 30;12(7) doi: 10.3390/cells12071046. PMID: 37048120Free PMC Article
Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family.
Heidari E, Razmara E, Hosseinpour S, Tavasoli AR, Garshasbi M
Ann Hum Genet 2020 Jul;84(4):315-323. Epub 2020 Feb 20 doi: 10.1111/ahg.12378. PMID: 32077500

Clinical prediction guides

Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases.
Ng J, Barral S, Waddington SN, Kurian MA
Mov Disord 2023 Jun;38(6):924-936. Epub 2023 May 5 doi: 10.1002/mds.29416. PMID: 37147851Free PMC Article
Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia.
Reid KM, Steel D, Nair S, Bhate S, Biassoni L, Sudhakar S, Heys M, Burke E, Kamsteeg EJ, Genomics England Research Consortium, Hameed B, Zech M, Mencacci NE, Barwick K, Topf M, Kurian MA
Cells 2023 Mar 30;12(7) doi: 10.3390/cells12071046. PMID: 37048120Free PMC Article
Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family.
Heidari E, Razmara E, Hosseinpour S, Tavasoli AR, Garshasbi M
Ann Hum Genet 2020 Jul;84(4):315-323. Epub 2020 Feb 20 doi: 10.1111/ahg.12378. PMID: 32077500

Supplemental Content

Table of contents

    Clinical resources

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    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

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    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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