Families affected by Segawa’s disease perform their first meeting in Spain

The Reina Sofía Hospital in Cordoba hosted the first meeting of families affected by Segawa’s disease on Saturday, February 2.

The meeting, organized by Neuropediatricians Eduardo López Laso and Joaquín A. Fernández Ramos, addressed the pathophysiology of Segawa disease, a rare neurometabolic disorder characterized in its two variants, the recessive and dominant. It manifests with variable clinical symptoms, from dystonia to progressive infantile encephalopathy or Parkinsonism at older ages.

In addition, clinical trials and ongoing research projects were presented such as the study of patient distribution in Spain, participation in the iNTD Registry, the clinical gidelines for BH4 deficiencis, a new biochemical test for the diagnosis of the disease and the analysis of the founding effect.


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