Dystonia 12
- Synonyms
- DYT-ATP1A3; Rapid-Onset Dystonia-Parkinsonism
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Allison Brashear
- Kathleen J Sweadner
- Jared F Cook
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Drooling
Drooling
- MedGen UID: 8484
- Concept ID: C0013132
- Finding: Finding
Abnormality of head or neck
- Hypomimic face
Hypomimic face
- MedGen UID: 208827
- Concept ID: C0813217
- Finding: Finding
Abnormality of head or neck
- Drooling
- Abnormality of the digestive system
- Dysphagia
Dysphagia
- MedGen UID: 41440
- Concept ID: C0011168
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Dysphagia
- Abnormality of the nervous system
- Anxiety
Anxiety
- MedGen UID: 1613
- Concept ID: C0003467
- Finding: Finding
Abnormality of the nervous system
- Bradykinesia
Bradykinesia
- MedGen UID: 115925
- Concept ID: C0233565
- Finding: Sign or Symptom
Abnormality of the nervous system
- Bulbar signs
Bulbar signs
- MedGen UID: 347246
- Concept ID: C1856507
- Finding: Finding
Abnormality of the nervous system
- Depression
Depression
- MedGen UID: 4229
- Concept ID: C0011581
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysarthria
Dysarthria
- MedGen UID: 8510
- Concept ID: C0013362
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Emotional lability
Emotional lability
- MedGen UID: 39319
- Concept ID: C0085633
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Mutism
Mutism
- MedGen UID: 6476
- Concept ID: C0026884
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Parkinsonian disorder
Parkinsonian disorder
- MedGen UID: 66079
- Concept ID: C0242422
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Postural instability
Postural instability
- MedGen UID: 334529
- Concept ID: C1843921
- Finding: Finding
Abnormality of the nervous system
- Torticollis
Torticollis
- MedGen UID: 11859
- Concept ID: C0040485
- Finding: Sign or Symptom
Abnormality of the nervous system
- Tremor
Tremor
- MedGen UID: 21635
- Concept ID: C0040822
- Finding: Sign or Symptom
Abnormality of the nervous system
- Unsteady gait
Unsteady gait
- MedGen UID: 68544
- Concept ID: C0231686
- Finding: Finding
Abnormality of the nervous system
- Anxiety
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