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Striatal degeneration, autosomal dominant

MedGen UID:
322971
Concept ID:
C1836694
Disease or Syndrome
Synonym: Autosomal dominant striatal neurodegeneration
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Related genes: PDE10A, PDE8B
 
Monarch Initiative: MONDO:0000211
OMIM® Phenotypic series: PS609161
Orphanet: ORPHA228169

Definition

An adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Striatal degeneration, autosomal dominant in Orphanet.

Recent clinical studies

Diagnosis

Ni J, Yi X, Liu Z, Sun W, Yuan Y, Yang J, Jiang H, Shen L, Tang B, Liu Y, Wang J
Parkinsonism Relat Disord 2019 Dec;69:94-98. Epub 2019 Nov 5 doi: 10.1016/j.parkreldis.2019.11.002. PMID: 31726290

Prognosis

Ni J, Yi X, Liu Z, Sun W, Yuan Y, Yang J, Jiang H, Shen L, Tang B, Liu Y, Wang J
Parkinsonism Relat Disord 2019 Dec;69:94-98. Epub 2019 Nov 5 doi: 10.1016/j.parkreldis.2019.11.002. PMID: 31726290
Azuma R, Ishikawa K, Hirata K, Hashimoto Y, Takahashi M, Ishii K, Inaba A, Yokota T, Orimo S
Mov Disord 2015 Dec;30(14):1964-7. Epub 2015 Oct 13 doi: 10.1002/mds.26345. PMID: 26769607

Clinical prediction guides

Ni J, Yi X, Liu Z, Sun W, Yuan Y, Yang J, Jiang H, Shen L, Tang B, Liu Y, Wang J
Parkinsonism Relat Disord 2019 Dec;69:94-98. Epub 2019 Nov 5 doi: 10.1016/j.parkreldis.2019.11.002. PMID: 31726290
Azuma R, Ishikawa K, Hirata K, Hashimoto Y, Takahashi M, Ishii K, Inaba A, Yokota T, Orimo S
Mov Disord 2015 Dec;30(14):1964-7. Epub 2015 Oct 13 doi: 10.1002/mds.26345. PMID: 26769607

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