This website provides information on patients with mutations leading to expression of the DUX4 retrogene, including clinical data, molecular data, management and research options.

The syndrome caused by the expression of the DUX4 is a disorder characterized by progressive muscular dystrophy of varying onset. The classic disease form distinguishes by a particular distribution of muscle impairment affecting facial and shoulder girdle muscles. However, abdominal muscles and leg muscles are also often involved. However, not all individuals with an expression of the DUX4 retrogene have the same features.

This website was created to share and collect information about the clinic, management, and research projects to gather more knowledge and provide better treatment of patients with mutations leading to the expression of the DUX4 retrogene.

Adam Sebastian Hirschfeld, MD, Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland, hirschfeld@protonmail.com