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- Disease Information
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Disease Processes ▼
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Disease Information for Dentatorubral-Pallidoluysian Atrophy (DRPLA)
- Clinical Manifestations
- Signs & Symptoms
- Ataxia
- Athetosis
- Basal ganglion signs
- Chorea signs
- Choreoathetosis
- Cognitive defect
- Intellectual Decline Children
- Movement or gait disorder/signs
- Myoclonus/Myoclonic jerks on exam
- Neurologic manifestations/signs
- Neurological symptoms/signs
- Personality change
- Rapidly progressive dementia
- Neuropsychiatric symptoms
- Queer bizarre behavior/change
- School/job performance decline
- Clinical Presentation & Variations
- Presentation/Mental Retardation Progressive
- Presentation/Movement Disorder Ataxia Dementia Progressive
- Presentation/Progressive dementia Child Infant
- Presents/Myoclonus Epilepsy Mental Decline <20
- Disease Progression
- Course/Chronic disorder
- Course/Chronic only
- Course/Progressive
- Onset/adult
- Onset/Age 5 to 15 years
- Onset/gradual
- Onset/Manifestation/Any age
- Demographics & Risk Factors
- Ethnic or Racial Factors
- Japanese population/ethnic stock
- Population Group
- Child
- Population/Pediatrics population
- Family History
- Family history/Dementia
- Family history/Gait disorders
- Family history/Mental retardation
- Family history/Tremor
- Sex & Age Groups
- Population/Child
- Population/Child-Infant Only
- Population/Children/all
- Laboratory Tests
- Abnormal Lab Findings (Non Measured)
- Chromosomal abnormality (Lab)
- DNATest specific/genetics laboratory/abnormality (Lab)
- Diagnostic Test Results
- Other Tests & Procedures
- Amniocentesis/Abnormality
- CT Scan
- MRI/Head lesions basal ganglia
- MRI/Head Scan Abnormal
- MRI/Head scan pontine lesion
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Cerebellar ataxia
- Dentatorubral-Pallidoluysian Atrophy (DRPLA)
- Epilepsy
- Disease Mechanism & Classification
- Class
- CLASS/Neurologic (category)
- Pathophysiology
- Pathophysiology/Anticipation kindred inheritance earlier onset effect
- Pathophysiology/Gene locus chromosome 12
- Pathophysiology/Gene locus chromosome 12p
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Hereditary anticipation/generations worsen
- Pathophysiology/CNS degeneration
- Pathophysiology/Dentatorubral-Pallidoluysian Atrophy
- Pathophysiology/Neurologic degenerative disorder (ex)
- Genomics position 12p13 .3 ATN1
- Pathophysiology/DRPLA CTG-b37 repeats gene mutation
- Pathophysiology/Gene Locus 12Pter-p12
- Process
- PROCESS/Atrophic disorders (ex)
- PROCESS/Hereditofamilial (category)
- PROCESS/INCIDENCE/Rare disease (ex)
- PROCESS/Movement disorder (ex)
- PROCESS/Developmental degenerative neurological disorder (ex)
- PROCESS/Hereditary ataxia disorder (ex)
- Synonyms
- Synonym
- Dentatorubral Pallidoluysian Atrophy, Synonym/DRPLA, Synonym/Haw River Syndrome DRPLA variant, Synonym/Pallidal degeneration, progressive
- Treatment
- Other Treatments
- TX/Genetic counselling
- Definition
-
DRPLA ;progressive disorder ataxia, choreoathetosis, dementia, character changes in adults and and ataxia, myoclonus, epilepsy, and progressive intellectual decline in children. Hereditary autosomal dominant common in Japan.
[Gene reviews NIH Online 2009]
(Edit)
- External Links Related to Dentatorubral-Pallidoluysian Atrophy (DRPLA)
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)
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