Overview
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare genetic brain disorder that belongs to a group of conditions called neurodegeneration with brain iron accumulation (NBIA). It is also known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). In BPAN, iron builds up abnormally in certain parts of the brain, particularly areas involved in movement and thinking. The disease is caused by changes (mutations) in the WDR45 gene, which plays a role in a cell-cleaning process called autophagy. BPAN typically shows two distinct phases. In childhood, affected individuals experience developmental delays, intellectual disability, and often seizures. Children may have trouble learning to walk and talk, and their development tends to plateau early. For many years, the condition may appear relatively stable. Then, usually in adolescence or early adulthood, a second phase begins with progressive worsening. This includes movement problems such as dystonia (involuntary muscle contractions) and parkinsonism (stiffness, slowness, and tremor), along with a decline in thinking and memory skills (dementia). There is currently no cure for BPAN, and treatment focuses on managing symptoms. Seizures are treated with anti-seizure medications, and movement problems may be partially managed with medications used for Parkinson's disease or dystonia. Physical therapy, occupational therapy, and speech therapy are important parts of care. Research into iron chelation therapy and other approaches is ongoing, but no disease-modifying treatment is yet available.
Also known as:
Key symptoms:
Developmental delay in childhoodIntellectual disabilitySeizures or epilepsyDelayed speech and language skillsDifficulty walking or unsteady gaitInvoluntary muscle contractions (dystonia)Stiffness and slowness of movement (parkinsonism)TremorDecline in thinking and memory skills (dementia) in adulthoodSleep disturbancesBehavioral difficultiesDifficulty with fine motor skillsEye movement abnormalitiesLoss of previously acquired skills in adulthood
Clinical phenotype terms (22)— hover any for plain English
X-linked dominant
Carried on the X chromosome; a single copy can cause the condition
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Beta-propeller protein-associated neurodegeneration.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Beta-propeller protein-associated neurodegeneration.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What stage of BPAN is my child or family member currently in, and what changes should I watch for?,What is the best approach to managing seizures, and what should I do if a seizure lasts more than 5 minutes?,Are there any clinical trials or experimental treatments available for BPAN right now?,What therapies (physical, occupational, speech) do you recommend, and how often?,Should other family members be tested for the WDR45 gene change?,How will we monitor for disease progression, and how often should brain MRI be repeated?,What resources or support groups can you connect us with for families affected by BPAN or NBIA?
Common questions about Beta-propeller protein-associated neurodegeneration
What is Beta-propeller protein-associated neurodegeneration?
Beta-propeller protein-associated neurodegeneration (BPAN) is a rare genetic brain disorder that belongs to a group of conditions called neurodegeneration with brain iron accumulation (NBIA). It is also known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). In BPAN, iron builds up abnormally in certain parts of the brain, particularly areas involved in movement and thinking. The disease is caused by changes (mutations) in the WDR45 gene, which plays a role in a cell-cleaning process called autophagy. BPAN typically shows two distinct phases. In childhood, aff
How is Beta-propeller protein-associated neurodegeneration inherited?
Beta-propeller protein-associated neurodegeneration follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Beta-propeller protein-associated neurodegeneration typically begin?
Typical onset of Beta-propeller protein-associated neurodegeneration is childhood. Age of onset can vary across affected individuals.
Which specialists treat Beta-propeller protein-associated neurodegeneration?
18 specialists and care centers treating Beta-propeller protein-associated neurodegeneration are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.