The Filum Disease: a congenital condition that may affect several members of the same family.

Published by ICSEB at 14 February, 2025

The Filum System® method takes into account, in its guidelines, that the Filum Disease constitutes a congenital pathological entity of probable genetic cause**.

Due to this particularity, our centre recommends an evaluation of the first-degree relatives of each patient, through complementary tests, along with remote preliminary diagnostic impression or an in-person consultation at ICSEB.

Thanks to this action protocol by Dr. Royo-Salvador’s team, many families can efficiently and immediately receive diagnoses and access treatment after the initial diagnosed patient.

You can find testimonials about the cases of several families who have approached the Institut Chiari de Barcelona and have been treated according to the Filum System® health method at the link: https://institutchiaribcn.com/en/family-testimonials/

* Royo-Salvador, M.B., Fiallos-Rivera, M.V., Salca, H.C. et al. The Filum disease and the Neuro-Cranio-vertebral syndrome: definition, clinical picture and imaging features. BMC Neurol 20, 175 (2020). https://doi.org/10.1186/s12883-020-01743-y
** Brooke Sadler et al. Rare and de novo coding variants in chromodomain genes in Chiari I malformation. Am J Hum Genet. 2021 Jan 7;108(1):100-114. doi: 10.1016/j.ajhg.2020.12.001
** Grauers et al.. Genetics and pathogenesis of idiopathic scoliosis. Scoliosis and Spinal Disorders (2016) 11:45 doi 10.1186/s13013-016-0105-8