SPEG

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

The syndrome caused by mutations in the SPEGgene is a multisystem disorder characterized by

congenital hypotonia and weakness (frequently centronuclear myopathy), early-onset dilated cardiomyopathy, respiratory insufficiency and feeding difficulties. Severity ranges from severe neonatal presentations with early cardiac failure to milder, later-onset myopathic phenotypes.

Not all individuals with a mutation in the SPEGgene have these features. The phenotype varies with variant type and location within the gene, and features are variable.

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 SPEGgene.

Pankaj Agrawal, MD, MMSc, Professor of Pediatrics and Genetics UM Miller School of Medicine, Chief Neonatology Holtz Children’s Hospital, Jackson Health System, Miami, FL, United States, pagrawal@miami.edu
Tzofia Drori, MS, LCGC, Research Genetic Counselor Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine, Miami, FL, United States, tnd35@miami.edu