Don’t fight Beta-Propeller Protein-Associated Neurodegeneration alone.Find your community on the free RareGuru App.
Beta-propeller protein-associated neurodegeneration (BPAN) , also known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), is a hereditary neurologic disorder. It is part of the group of disorders known as neurodegeneration with brain iron accumulation. This disorder presents with global developmental delay in childhood which becomes progressive in early adulthood. Symptoms include dystonia (a movement disorder resulting in muscular spasms, twisting and repetitive movements) spasticity, parkinsonism (slurred or slow speech, stiffness of the muscles, slow movement, and visible tremors), and cognitive decline. BPAN is caused by mutations in the WDR45 gene. It is inherited in a dominant X-linked manner. Treatment is aimed at addressing the symptoms found in each individual.
Source: GARD Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!