Dopamine transporter deficiency syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Parkinsonism-dystonia infantile; Infantile Parkinsonism-dystonia; DTDS;
Congenital and Genetic Diseases; Nervous System Diseases
Dopamine transporter deficiency
The dystonia in DTDS is characterized by uncontrollable (involuntary), long-lasting muscle contractions and cramps that involve many different muscles. Dystonia causes difficulty with daily activities and impairs the ability to talk, eat, drink, pick up objects, and walk. Parkinsonism develops as the disorder progresses and is characterized by tremor (shaking), slowed movements (bradykinesia), rigidity (stiffness), and impaired balance and coordination. Additional symptoms that may be present include abnormal eye movements, reduced facial expressions, irritability, sleeping problems, digestive problems (such as reflux or constipation), and recurrent pneumonia which can be life-threatening. Classic DTDS is associated with a poor outlook (
DTDS is caused by
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|30%-79% of people have these symptoms|
|Abnormal circulating carboxylic acid concentration||0004354|
|Abnormal pyramidal sign||0007256|
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
[ more ]
Slowness of movements
[ more ]
[ more ]
Acid reflux disease
[ more ]
Decreased muscle movement
Decreased spontaneous movement
Decreased spontaneous movements
[ more ]
Dull facial expression
Increased muscle tone of arm or leg
Low muscle tone in trunk
|Percent of people who have these symptoms is not available through HPO|
|Delayed gross motor development||
Delayed motor skills
Disorder of involuntary muscle movements
Onset in first year of life
Onset in infancy
[ more ]
|Morphological abnormality of the pyramidal tract||0002062|
Worsens with time
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
International Parkinson and Movement Disorder Society
555 East Wells Street, Suite 1100
Milwaukee, WI 53202-3823
Parkinson & Movement Disorder Alliance (PMD Alliance)
PO Box 36233
Tucson, AZ 85704
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Genetics Home Reference (GHR) contains information on Dopamine transporter deficiency syndrome. This website is maintained by the National Library of Medicine.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Dopamine transporter deficiency syndrome. Click on the link to view a sample search on this topic.
- Ng J, Zhen J, Meyer E, et al. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain. April, 2014; 137(Pt 4):1107-1119. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959557/.
- Dopamine transporter deficiency syndrome. Genetics Home Reference (GHR). October, 2015; https://ghr.nlm.nih.gov/condition/dopamine-transporter-deficiency-syndrome.
- Kurian MA. SLC6A3-Related Dopamine Transporter Deficiency Syndrome. GeneReviews. July 27, 2017; https://www.ncbi.nlm.nih.gov/books/NBK442323/.
- Cassandra L. Kniffin. PARKINSONISM-DYSTONIA, INFANTILE, 1; PKDYS1. Online Mendelian Inheritance in Man (OMIM). January 29, 2014; https://www.omim.org/entry/613135.