This website provides information on patients with mutations in the DEGS1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the DEGS1 gene is called Leukodystrophy, hypomyelinating 18 (OMIM #618404). It is a neurological disorder characterized by global developmental delay or developmental regression at 6-18 months, leading to mild to severe intellectual disability. They have spastic-dystonic tetraparesis, epilepsy, nystagmus and profound failure to thrive.
MRI showed hypomyelination, thinning of the corpus callosum, and progressive thalamic and cerebellar atrophy.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the DEGS1 gene.
Aurora Pujol, MD, PhD, Hospital Duran i Reynals, L’Hospitalet de Llobregat, Spain, firstname.lastname@example.org
Agusti Rodriguez-Palmero, MD, Germans Trias i Pujol University Hospital, Badalona, Spain, email@example.com