Living with Neurodegeneration with brain iron accumulation 5
A nervous system condition (BPAN) with seizures from infancy or early childhood, developmental delay, and movement problems.
Understanding Neurodegeneration with brain iron accumulation 5
Iron builds up in the brain, though it may not appear until late. Many people have recurrent seizures that begin in infancy or early childhood, and several types of seizures can occur in the same person. Children also have intellectual disability, delayed development with significant speech problems, and trouble coordinating movements (ataxia).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures that start in infancy or early childhood
- Intellectual disability
- Delayed development
- Poor speech
- Poor coordination (ataxia)
- Parkinson-like symptoms such as slow movement
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 and genetic specialists.
- 3Consider genetic testing
Changes in WDR45 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
Quick facts
GARD lists changes in the WDR45 gene. It is X-linked, which means the gene is on the X chromosome.
Also known as: beta-propeller protein-associated neurodegeneration; bpan; bpan - beta-propeller protein-associated neurodegeneration; nbia5; neurodegeneration with brain iron accumulation 5, x-linked dominant; neurodegeneration with brain iron accumulation caused by mutation in wdr45
Patient organizations
- NBIA Disorders AssociationNeurodegeneration with brain iron accumulation 5 · United States
- Beat BPANNeurodegeneration with brain iron accumulation 5 · United States
- Don't Forget MorganNeurodegeneration with brain iron accumulation 5 · United States
- NBIAcureNeurodegeneration with brain iron accumulation 5 · United States
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