What is DTDS?
While every family’s story is unique and each journey comes with its own twists and turns, this page is a synopsis of information about DTDS from a clinical overview. Your story matters. Beyond the doctors’ definitions and diagnosis, getting to know how other families are living with DTDS is valuable. If you’d like to share your story, feel free to use the Contact Us page to reach out.
Understanding Dopamine Transporter Deficiency Syndrome (DTDS)
Dopamine Transporter Deficiency Syndrome (DTDS) is a very rare neurological condition that affects movement. It's sometimes called infantile parkinsonism-dystonia because symptoms often begin in infancy and gradually get worse over time — though in some cases, signs may not appear until later in childhood or even adulthood.
Children with DTDS typically experience dystonia, which involves involuntary muscle contractions that can affect many parts of the body. These muscle spasms can make everyday activities like speaking, eating, drinking, walking, or picking up objects very difficult.
As the condition progresses, many children also develop parkinsonism — a group of movement symptoms that can include tremors, slow movement, muscle stiffness, and difficulty with balance and posture. Other challenges may include changes in eye movement, reduced facial expression, sleep problems, breathing issues like frequent pneumonia, and digestive concerns such as acid reflux and constipation.
DTDS can significantly affect a child’s health and quality of life, and in some cases, it may shorten life expectancy, especially if serious complications like pneumonia occur. However, because the condition is so rare, doctors and researchers are still learning about its long-term effects. Some individuals with later-onset symptoms may live into adulthood.
For Newly Diagnosed Families
A diagnosis of DTDS can feel overwhelming — but you're not alone. The DTDS Foundation is here to help you make sense of what’s ahead, connect you with medical experts, and introduce you to other families walking a similar path. We encourage you to start by exploring our family guides, support groups, and resource library. Every question is welcome, and every step forward is a shared one.
What Causes Dopamine Transporter Deficiency Syndrome (DTDS)?
Dopamine Transporter Deficiency Syndrome (DTDS) is caused by changes (mutations) in a gene called SLC6A3. This gene gives instructions for making a protein known as the dopamine transporter, which is responsible for moving dopamine — a chemical messenger — into certain nerve cells in the brain. Dopamine plays a key role in controlling movement, as well as influencing thought, motivation, and behavior.
When there are mutations in the SLC6A3 gene, the dopamine transporter doesn’t work properly or may stop working altogether. This causes a shortage of dopamine in the brain, which disrupts the normal flow of signals between nerve cells. Even though dopamine is crucial for controlling movement, doctors and researchers still don’t fully understand how the lack of dopamine leads to the specific movement challenges people with DTDS experience.
Research suggests that the timing of when symptoms begin is connected to how severely the dopamine transporter is affected. For example, individuals who start showing signs of the condition in infancy often have very low dopamine transporter activity — less than 5 percent of what’s normal. On the other hand, those who develop symptoms later in childhood or adulthood tend to have slightly higher dopamine transporter activity, although it’s still lower than normal. Scientists believe that this higher activity may help delay the onset of symptoms in some cases.
Genetic Testing and Diagnosis
Genetic testing can confirm a diagnosis of DTDS. If your child is showing symptoms of movement disorders, genetic testing can identify whether mutations in the SLC6A3 gene are present. This test can provide clarity and help guide medical decisions, as well as offer insights into potential treatment options and the likelihood of symptoms appearing in the future.
It’s important to consult with a genetic counselor or healthcare provider to discuss testing options, what the results might mean, and how to proceed with treatment or support. If you're considering genetic testing, the DTDS Foundation is here to help connect you with specialists and provide additional resources.
Treatment Options
Currently, there is no cure for DTDS, but there are treatments that can help manage the symptoms. Medications such as muscle relaxants and dopaminergic therapies may be prescribed to help control dystonia (muscle contractions) and parkinsonism (movement issues). Other treatments, like physical therapy and speech therapy, may also be beneficial for improving mobility, speech, and overall quality of life.
Since the progression of DTDS can vary, working closely with a team of medical professionals, including neurologists and movement disorder specialists, is essential for creating a personalized care plan. The DTDS Foundation can help connect families with expert doctors and support resources to ensure the best care for individuals living with DTDS.
Types of DTDS: What Families Should Know
DTDS can look different from person to person. While some children begin showing signs very early in life, others may not experience symptoms until later in childhood or even adulthood. Doctors generally describe two forms of DTDS based on when symptoms appear and how the condition progresses:
Classic DTDS: This form usually begins in early infancy. At first, symptoms may seem vague or hard to recognize — such as low muscle tone, feeding difficulties, or developmental delays. Over time, these symptoms progress to more noticeable movement challenges, including severe dystonia (involuntary muscle contractions) and parkinsonism (slowness, stiffness, and tremors). Classic DTDS often has a more intense impact on mobility and daily life.
Atypical DTDS: In some cases, symptoms don’t appear until childhood, the teenage years, or even adulthood. This form may progress more slowly and have a milder or different set of symptoms. Individuals with atypical DTDS might still experience movement issues, but they may retain more independence for a longer time and respond differently to treatments.
No matter when symptoms begin, a confirmed diagnosis of DTDS can help guide treatment and connect families to supportive resources. Whether your child has classic or atypical DTDS, you're not alone — and there is a growing community of families, doctors, and researchers working together to improve care and understanding.
Other Names for DTDS:
DAT Deficiency
DTDS
Infantile Parkinsonism-dystonia
PKDYS
Parkinsonism-dystonia infantile
SLC6A3-Related Dopamine Transporter Deficiency Syndrome
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