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Striatal degeneration, autosomal dominant 2(ADSD2)

MedGen UID:
934758
Concept ID:
C4310791
Disease or Syndrome
Synonym: ADSD2
 
Gene (location): PDE10A (6q27)
 
Monarch Initiative: MONDO:0014835
OMIM®: 616922

Definition

Autosomal dominant striatal degeneration-2 is a neurologic disorder characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia. Although symptoms appear in the first decade, the disorder is not progressive (summary by Mencacci et al., 2016). For a discussion of genetic heterogeneity of ADSD, see ADSD1 (609161). [from OMIM]

Clinical features

From HPO
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Mental deterioration
MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Parkinsonian disorder
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Abnormal corpus striatum morphology
MedGen UID:
869185
Concept ID:
C4023607
Anatomical Abnormality
Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Prognosis

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

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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