Resources
Resources for Families, Caregivers, and Supporters
At the DTDS Foundation, we understand how overwhelming it can be to navigate a rare diagnosis like DTDS. That’s why we’ve created this resource hub — a place where families, caregivers, and supporters can find trusted information, helpful tools, and guidance at every stage of the journey. Whether you’re looking to understand the basics of DTDS, explore care options, or connect with others who share your experience, we’re here to help you feel informed, empowered, and supported.
Join the DTDS Family Contact Registry
The DTDS Foundation maintains a private, secure registry of families affected by Dopamine Transporter Deficiency Syndrome (DTDS) around the world. This registry helps us:
Connect families within the same geographic areas
Understand where DTDS families are located globally
Share accurate data with our Medical Advisory Board
Provide families with important updates and helpful resources
Why Register?
By joining the DTDS Family Contact Registry, you're helping us track the growing number of DTDS cases and enabling better support and communication across the community. Registry members will receive updates about:
New discoveries that may impact treatment and care
Research participation opportunities
Ways to contribute data to advance understanding of DTDS
Please note:
The DTDS Family Contact Registry is separate from our newsletter. To be included, you must opt in by completing the registry form above.
We respect your privacy. Your information will never be used for marketing or fundraising. If our policy ever changes, we’ll notify you. You may opt out of the registry at any time by emailing admin@dtdsfoundation.org.
Dystonia: A movement disorder that causes muscles to contract uncontrollably, leading to twisting or repetitive movements and abnormal postures. It can affect various parts of the body and make everyday tasks like walking, speaking, or eating difficult.
Parkinsonism: A group of movement symptoms commonly associated with Parkinson’s disease. It includes tremors (shaking), slow movement (bradykinesia), muscle rigidity (stiffness), and balance problems. Parkinsonism can develop as DTDS progresses.
Bradykinesia: The term for unusually slow movement. It can make simple tasks, like walking or moving limbs, take much longer than normal.
Hypomimia: A condition where a person’s facial expressions become less noticeable, often making them appear less expressive or less emotionally responsive. This is common in people with Parkinsonism.
Gastroesophageal Reflux (GERD): A digestive condition where stomach acid moves up into the esophagus, causing heartburn and sometimes leading to difficulty swallowing or breathing issues. This can occur in individuals with DTDS.
Postural Instability: A balance problem where a person may have difficulty maintaining an upright position. It can lead to falls or trouble standing without support.
Tremors: Involuntary shaking or trembling movements, often seen in individuals with Parkinsonism.
Pneumonia: A lung infection that can cause difficulty breathing, cough, fever, and sometimes serious complications. It’s a common concern for children with DTDS due to breathing difficulties.
Constipation: Difficulty passing stool or infrequent bowel movements. This can be a challenge for some individuals with DTDS.
U.S. Department of Health & Human Services
In addition to other illness and disease information, this site offers information about DTDS including causes, stages and symptoms. The website has ideas on your diagnostic journey and the team you may need to help you along the way.
MDPI
More like a medical journal article, this website page offers a detailed and clinical explanation of DTDS. There is also information shared here on therapy development.
Medline Plus
With more than 25 years of health information on a wide variety of health topics, the page devoted to DTDS includes causes, how this shows up in parents, other information and resouces.
Other helpful and informative links:
Genetic Testing Information
Patient Support and Advocacy Resources
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
Research Library
We've curated a list of published research studies related to Dopamine Transporter Deficiency Syndrome (DTDS) for your reference.
Please note:
These external links are provided for informational purposes only. The DTDS Foundation does not endorse or verify the accuracy, views, or services of any individuals or organizations linked. We are not affiliated with the authors and are not responsible for the content of these external sources or any sites they may link to.
For questions about the material, please contact the original publisher or organization directly.
Expanding the phenotypic spectrum of dopamine transporter deficiency syndrome with a novel mutation (2020)
Early-onset Dopamine Transporter Deficiency Syndrome: Long-term Follow-up (2020)
Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment (2016)
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood (2014)
Infantile parkinsonism-dystonia: a dopamine “transportopathy” (2009)
SLC6A3-Related Dopamine Transporter Deficiency Syndrome (1993)
Important Note:
The DTDS Foundation provides these research links as a convenience. We do not endorse or guarantee the accuracy, views, or services represented in these external publications. The content is the sole responsibility of the original authors and institutions.
We are not the authors or contributors of these works. For questions or clarifications, please contact the source directly.
Global Genes
This nonprofit provides patient advocates with a continuum of services to accelerate their path from early support and awareness through research readiness, using a collaborative approach that involves biopharma, researchers and funders, with data as a central core.
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