Genetic Testing for Beta-propeller Protein-Associated Neurodegeneration (BPAN) (P5.026)

Conclusions:BPAN is an extremely rare disease characterized by global developmental delay followed in young adulthood by progressive dystonia-parkinsonism. BPAN, like an increasing number of rare neurological diseases, can be identified through genetic testing. Routine genetic testing however often provides incomplete results. Understanding the limitations of genetic testing and pursuing testing based on a clear clinical presentation is essential for establishing the correct diagnosis.Disclosure: Dr. Machado has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Tags: Movement Disorders: Other II Source Type: research