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Start free with EleplanClassic pantothenate kinase-associated neurodegeneration
ORPHA:216866Clinical subtype
Also called NBIA1, classic form · Neurodegeneration with brain iron accumulation type 1, classic form · PKAN, classic form
What it is
A rare, childhood-onset neurodegenerative disorder characterized by progressive dystonia, dysarthria, retinal degeneration and abnormal iron accumulation in the globus pallidus and substantia nigra with a characteristic eye-of-the-tiger sign on T2-weighted MRI. Classic PKAN has early onset and rapid progression and accounts for about 75% of cases.
Key facts
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal recessive
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- 1-9 / 1 000 000 (Europe)Pantothenate kinase-associated neurodegeneration
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Common30–79%
19- Abnormality of the tongue
- Abnormal posturing
- Attention deficit hyperactivity disorder
- Cognitive impairment
- Dysarthria
- Dysphagia
- Eye of the tiger anomaly of globus pallidus
- Frequent falls
- Generalized dystonia
- Hyperreflexia
- Inability to walk
- Increased susceptibility to fractures
- Iron accumulation in brain
- Muscle stiffness
- Optic disc pallor
- Pigmentary retinopathy
- Rod-cone dystrophy
- Spasticity
- Tip-toe gait
Sometimes5–29%
6These 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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