Bachmann–Bupp Syndrome and Treatment
TLDR DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
Bachmann–Bupp syndrome (BABS) is a rare genetic disorder caused by mutations in the ODC1 gene, leading to symptoms such as non-congenital alopecia, hypotonia, developmental delays, and seizures. With fewer than 30 known cases worldwide, treatment with α-difluoromethylornithine (DFMO) has shown significant clinical improvements by normalizing putrescine levels and improving symptoms. The rapid development and implementation of DFMO treatment, including hair regrowth and motor skill development, underscore the potential of genetic diagnoses and precision medicine in treating rare diseases. Ongoing research and patient follow-up are essential to fully understand BABS and develop more potent treatments.
