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Living with PLA2G6-associated neurodegeneration

A group of inherited nervous system conditions that affect movement, thinking and vision, with onset from infancy to adulthood.

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Understanding PLA2G6-associated neurodegeneration

PLA2G6-associated neurodegeneration (PLAN) is a group of three overlapping inherited nervous system conditions.

The three types are infantile neuroaxonal dystrophy (INAD), atypical neuroaxonal dystrophy, and PLA2G6-related dystonia-parkinsonism. INAD usually starts between 6 months and 3 years with delayed or lost skills and low muscle tone. The atypical type usually starts in early childhood. Dystonia-parkinsonism often starts in early adulthood with trouble walking or changes in mood and behavior.

Signs & symptoms

Symptoms vary by type and from person to person. GARD describes these:

  • Delayed or lost developmental skills
  • Low muscle tone and stiff muscles
  • Crossed eyes, eye movement changes, optic nerve damage
  • Unsteady walking and poor balance
  • Muscle spasms (dystonia) and parkinsonism
  • Attention, impulsivity and mood changes

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include brain and nervous system specialists and genetic specialists.

  3. Consider genetic testing

    Changes in PLA2G6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

Care & treatment

Care team
Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
Expert care
Ask about multidisciplinary care centers for rare conditions
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with NBIA Disorders Association and other patient organizations
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Should we have genetic testing for PLA2G6, and should relatives be tested?
Which of the three types does this appear to be?
Which therapies and specialists can help with movement, vision and learning?

Quick facts

GenesPLA2G6

Changes in the PLA2G6 gene cause this condition.

GeneticNeurologicalInherited Metabolic

Also known as: neurodegeneration with brain iron accumulation caused by mutation in pla2g6; phospholipase a2-associated neurodegeneration; pla2g6 neurodegeneration with brain iron accumulation; plan

Patient organizations

Source: NIH GARD · PLA2G6-associated neurodegenerationGARD ID 12567 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

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Explore research for PLA2G6-associated neurodegeneration

Explore actively recruiting PLA2G6-associated neurodegeneration studies with HealthSpark.

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Find actively recruiting studies for PLA2G6-associated neurodegeneration with HealthSpark. Share your city to explore research near you.

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  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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