Infantile dystonia-parkinsonism, also known as dopamine transporter deficiency syndrome (DTDS), is a genetic, neurological condition that affects movement.^1,2 Symptoms usually present soon after birth, starting with feeding difficulties, irritability, and low muscle tone of the body torso (axial hypertonia).^2,3 The condition worsens over time, progressing to dystonia and parkinsonism. The dystonia is characterised by uncontrollable muscle contractions and cramps, interfering with daily activities such as eating, drinking, talking and moving.¹ The parkinsonism is characterised by tremors (shaking), impaired balance and coordination, rigidity (stiffness), slowed movement (bradykinesia), and in some cases, eventual loss of ability of voluntary muscle movement (akinesia).^1,3 These symptoms can resemble, and sometimes be mistaken for, cerebral palsy.^2,3

Infantile dystonia-parkinsonism is the classic form of DTDS. There is also a later on-set form of DTDS, in which symptoms only present either later in childhood or during adolescence or adulthood.³

Synonyms: Dopamine Transporter Deficiency Syndrome (DTDS); IPD; PKDYS; SLC6A3-related DTDS.^1-3

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:238455 Infantile dystonia-parkinsonism

ICD-11: 8A02.12 Dystonia associated with heredodegenerative disorders

Infantile dystonia-parkinsonism is characterised as a movement disorder.^1,3 Symptoms such as feeding difficulties, irritability, and low muscle tone of the body torso (axial hypertonia) are typically observed soon after birth.^2,3 This is often followed by:¹

• dystonia characterised by uncontrollable muscle contractions and cramps
• parkinsonism characterised by tremors (shaking), impaired balance and coordination, rigidity (stiffness), slowed movement (bradykinesia), and sometimes loss of ability of voluntary muscle movement (akinesia)

Other features of infantile dystonia-parkinsonism may include global developmental and motor delay, trouble communicating and abnormal eye movements.^2,4 There may also be complications with the spine and bones (orthopaedic), lungs (pulmonary) and gut (gastrointestinal tract).³

Please speak to your medical team to learn more about the signs and symptoms of infantile dystonia-parkinsonism.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Infantile dystonia-parkinsonism is a genetic condition. It is caused by disease-causing genetic changes (variants) in the SLC6A3 gene that results in loss of function of the presynaptic dopamine transporter.⁴ Dopamine is a neurotransmitter involved in signaling between nerve cells (neurons). These SLC6A3 genetic variants ultimately affects dopamine signalling (dopaminergic neurotransmission) in the brain.²

All individuals have two copies (alleles) of the SLC6A3 gene – one on each chromosome that is inherited from each parent. Infantile dystonia-parkinsonism is typically an autosomal recessive condition, which means both copies of the SLC6A3 gene must have the disease-causing genetic variants.

Individuals with the genetic variant in only one copy are unaffected but will be a carrier and may pass on that variant to their children. If both parents are carriers (each have a copy of the disease-causing variant), there is a 25% chance the child will inherit both disease-causing variants and have infantile dystonia-parkinsonism.⁴ More information about autosomal recessive conditions can be found at Centre for Genetics Education: Autosomal recessive inheritance.

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information on genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

Diagnosis of infantile dystonia-parkinsonism may be based on clinical evaluation of symptoms, laboratory analysis of cerebrospinal fluid (CSF) neurotransmitter profile, and genetic testing to identify changes in the SLC6A3 gene.³

Please speak to your medical team to learn more about the diagnostic pathways for infantile dystonia-parkinsonism.

There is currently no curative treatment for infantile dystonia-parkinsonism. Treatment is targeted at managing symptoms (symptomatic management), improve quality of life, reduce complications and involves a multidisciplinary care team.³

GeneReviews®: SLC6A3-Related Dopamine Transporter Deficiency Syndrome – Management has information about recommended evaluations and treatment of symptoms.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of infantile dystonia-parkinsonism may include general practitioners (GP), paediatricians, geneticists, neurologists, ophthalmologists, orthopaedic specialists, pulmonologists, and gastroenterologist.^1,3 The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

We are not aware of any clinical care guidelines for infantile dystonia-parkinsonism in Australia or globally. If you know of any relevant care guidelines, please let us know via the Contribute page.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

GeneReviews®: SLC6A3-Related Dopamine Transporter Deficiency Syndrome – Management include recommendations of agents/drugs to avoid in the treatment of infantile dystonia-parkinsonism.³

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

There are currently no known organisations for infantile dystonia-parkinsonism in Australia. If you are aware of any infantile dystonia-parkinsonism organisations in Australia, please let us know via the Contribute page.

Global organisation that supports infantile dystonia-parkinsonism:
DTDS Foundation (United States of America)
Website: https://dtdsfoundation.org/

Australian organisation that supports dystonia:
Dystonia Network of Australia Inc.
Website: https://dystonia.org.au/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Infantile dystonia-parkinsonism vary between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on infantile dystonia-parkinsonism can be found at:

• Genetic and Rare Diseases (GARD) Information Center – Infantile Dystonia Parkinsonism
• Orphanet: Infantile dystonia-parkinsonism

• GeneReviews^®: SLC6A3-Related Dopamine Transporter Deficiency Syndrome
• Online Mendelian Inheritance in Man, OMIM ^®: #613135 Parkinsonism-dystonia 1, infantile-onset; PKDYS1
• Orphanet: Infantile dystonia parkinsonism
• Human Phenotype Ontology (HPO): Infantile dystonia-parkinsonism

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.