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Start free with EleplanPLA2G6-related neurodegeneration, infantile-onset
ORPHA:35069Disease
Also called INAD · Infantile neuroaxonal dystrophy · Infantile PLAN · Infantile phospholipase A2-associated neurodegeneration · Seitelberger disease · PLA2G6-associated neurodegeneration, infantile-onset
What it is
A rare neurodegeneration with brain iron accumulation (NBIA) disorder characterized by global developmental delay and eventual regression, increasing neurological involvement with symmetrical spastic tetraplegia, loss of cognitive and bulbar function, seizures and optic atrophy. The infantile form of PLAN, which has onset before three years of age, is most common relative to juvenile-onset and adult-onset forms, and individuals may present with symptoms anywhere along a continuum.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy, Neonatal
- 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 cerebral white matter morphology
- Abnormality of peripheral nerve conduction
- Abnormality of visual evoked potentials
- Abnormal pyramidal sign
- Ataxia
- Axial hypotonia
- Bulbar signs
- Cerebellar gliosis
- Diffuse axonal swelling
- EMG: chronic denervation signs
- Eye of the tiger anomaly of globus pallidus
- Hyperreflexia
- Increased circulating lactate dehydrogenase concentration
- Iron accumulation in brain
- Mental deterioration
- Optic atrophy
- Peripheral axonal neuropathy
- Peripheral neuropathy
- Progressive spasticity
- Sensorimotor neuropathy
- Spastic tetraparesis
- Unsteady gait
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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