This website provides information on patients with mutations in the DNAJC19 (DnaJ Heat Shock Protein Family (Hsp40) Member C19) gene, including clinical data, molecular data, management, and research options.
The dilated cardiomyopathy with ataxia syndrome (DCMA) caused by mutations in the DNAJC19 gene is a multisystem disorder characterized by: Cerebellar ataxia, hypotonia, developmental delay, growth failure, dilated cardiomyopathy, prolongation of the QT interval and abnormalities of male genitalia.
Not all individuals with a mutation in the DNAJC19 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 DNAJC19 gene.
Steven C. Greenway, MSc, MD, University of Calgary, Calgary, Alberta, Canada, scgreenw@ucalgary.ca
Aneal Khan, MSc, MD, M.A.G.I.C. Clinic, Calgary, Alberta, Canada, khaa@ucalgary.ca