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Start free with EleplanPLA2G6-related neurodegeneration, adult-onset
ORPHA:199351Disease
Also called Dystonia-parkinsonism, Paisan-Ruiz type · PARK14 · PLA2G6-related dystonia-parkinsonism · PLA2G6-associated neurodegeneration, adult-onset · Adult-onset dystonia-parkinsonism · Adult PLAN · Adult phospholipase A2-associated neurodegeneration
What it is
A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent, Adult
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
22- Abnormal circulating creatine kinase concentration
- Bradykinesia
- Clumsiness
- Dysarthria
- Dyslexia
- Dysphagia
- Eyelid apraxia
- Focal dystonia
- Frontotemporal cerebral atrophy
- Frontotemporal dementia
- Generalized cerebral atrophy/hypoplasia
- Hyperreflexia
- Hypometric saccades
- Hypomimic face
- Neurofibrillary tangles
- Parkinsonism with favorable response to dopaminergic medication
- Postural instability
- Progressive extrapyramidal movement disorder
- Rigidity
- Spasticity
- Stiff hip
- Tremor
Sometimes5–29%
10- Delusion
- Depression
- Dystonia
- Global developmental delay
- Iron accumulation in brain
- Myoclonus
- Paranoia
- Personality changes
and 2 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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