This website provides information on patients with mutations in the GMPPA gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the GMPPA gene is a multisystem disorder characterized by Achalasia, Alacrima and variable neurological symptoms such as mental retardation, gait abnormalities and muscle weakness.

Not all individuals with a mutation in the GMPPA 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 GMPPA gene.

Christian A. Hübner, MD, Director, University Hospital Jena, Institut für Humangenetik, Jena, Germany, Christian.huebner@med.uni-jena.de