This website provides information on patients with mutations in the SLC18A3 gene, including clinical data, molecular data, management and research options.
The syndromes caused by mutations in the SLC18A3 gene range from congenital myasthenic syndromes (CMS) to fetal akinesia deformation sequence (FADS). Congenital myasthenic syndromes are characterized by muscle fatigability and weakness, (episodes of) respiratory insufficiency, feeding difficulties, and arthrogryposis. Fetal akinesia deformation sequence (FADS) is characterized by fetal akinesia, arthrogryposis, hydrops, and fetal anomalies.
Not all individuals with a mutation in the SLC18A3 gene have these features.
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 SLC18A3 gene.
Anna Hakonen, MD, PhD, Helsinki University Hospital (HUS) and University of Turku, Helsinki, Finland, firstname.lastname@example.org