Disease Information for Dentatorubral-Pallidoluysian Atrophy (DRPLA)

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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]

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External Links Related to Dentatorubral-Pallidoluysian Atrophy (DRPLA)
Google
Wikipedia
Merck
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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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