Living with Pigmentary pallidal degeneration
A nervous system condition that causes movement problems starting in childhood, with speech, vision and thinking changes in some people.
Understanding Pigmentary pallidal degeneration
It usually starts in childhood with muscle spasms, stiffness and trouble walking that worsen over time. Some people also have speech problems, vision loss, memory and thinking changes, or behavior and mood changes. Iron builds up in certain parts of the brain, which shows on MRI as the "eye-of-the-tiger" sign. The classic form starts in early childhood. The atypical form starts later and moves more slowly.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle spasms and stiffness (dystonia)
- Trouble walking
- Trouble speaking clearly (dysarthria)
- Loss of side vision
- Behavior changes
- Loss of thinking skills (mental deterioration)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in PANK2 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); Eye disease specialists (ophthalmologists); 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
Quick facts
Changes in the PANK2 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: harp syndrome; nbia1; neuroaxonal dystrophy, late infantile; neurodegeneration with brain iron accumulation 1; neurodegeneration with brain iron accumulation type 1; pantothenate kinase-associated neurodegeneration
Patient organizations
- NBIA Disorders AssociationPigmentary pallidal degeneration · United States
- NBIAcurePigmentary pallidal degeneration · United States
- Neuroacanthocytosis Advocacy USAPigmentary pallidal degeneration · United States
You are more than your diagnosis
Perspectives from people navigating life with Pigmentary pallidal degeneration.
Explore research for Pigmentary pallidal degeneration
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