Introduction:

DYT1 dystonia is an autosomal dominant disorder, meaning that it may be manifested in some individuals who have a single copy of the mutated DYT1 gene. The mutation responsible for DYT1 dystonia is deletion of one of a pair of certain basic chemical "building blocks" of DNA known as guanine, adenine, and guanine (GAG trinucleotides) in the DYT1 gene's coded instructions. The DYT1 gene regulates or "encodes" production of a protein known as torsinA. Although the protein's specific function is unknown, it appears to be related to a class of proteins (heat-shock proteins) that enable cells to recover from injury or stress. TorsinA is found in neurons throughout the brain.

About the registry:

The Registry is a patient-reported, international, multi-center, disease or condition listing registry for patients and their families who carry the DYT-1 Dystonia gene; no experimental intervention is involved.  A listing registry is “Data is collected in a naturalistic manner such that the management of patients is determined by the caregiver and patient together and NOT by the registry protocol.”

As the Registry is a voluntary program, Tyler’s Hope and it’s partners support and monitor several activities aimed at increasing patient enrollment and data submission by participation patients, families and their physicians.  These activities are managed by Tyler’s Hope Registry Associates (RAs) operating from offices in the US and Europe.

                                               Minimum Recommended Schedule of  Data Updates

Contact Information: