Infantile Dystonia-Parkinsonism

Diseases of the nervous system Movement disorders

Infantile Dystonia-Parkinsonism

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

For more information on this disease, please refer to Genetic and Rare Diseases (GARD) Information Center – Infantile Dystonia Parkinsonism1 and Orphanet: Infantile dystonia-parkinsonism.2

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.

Quick Page Search:
Emergency Management | Clinical Care Guidelines | Synonyms | Summary | Personal Stories | Symptoms | Cause/Inheritance | Diagnosis | Treatment | Clinical Care | Research | Rare Disease Organisation(s) | Support Services/Resources | Mental Health | Other | References

Emergency Management

There may be special considerations for the emergency management of individuals living with infantile dystonia-parkinsonism presenting to emergency departments.

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

Clinical Care Guidelines

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.

Synonyms

Dopamine Transporter Deficiency Syndrome (DTDS); IPD; PKDYS; SLC6A3-related DTDS

ORPHA:238455

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

Summary

Infantile dystonia-parkinsonism, also known as Dopamine transporter deficiency syndrome (DTDS),1 is a genetic, neurological condition that affects movement.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.1The 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

Useful Links for Professionals

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

Symptoms

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.

Cause/Inheritance

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

Infantile dystonia-parkinsonism has been found to be inherited in an autosomal recessive manner.2,4 More information about autosomal recessive conditions can be found at Factsheet: Autosomal recessive inheritance (NSW Government Health: Centre for Genetics Education).

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 on the National Services page and specific State and Territory Services pages on the RARE Portal.

Diagnosis

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.

Treatment

There is no curative treatment for infantile dystonia-parkinsonism, but there are strategies that can be used to manage the symptoms, improve quality of life, and reduce complications.3 This often involves a multidisciplinary medical team.

GeneReviews®: SLC6A3-Related Dopamine Transporter Deficiency Syndrome – Management has information about recommended evaluations and treatment of symptoms; however it is best to speak with your medical team to learn more about management strategies that are suitable. Treatment will depend on an individual’s specific symptoms.

Clinical Care

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.

Research

Please visit Australian Clinical Trials to learn about clinical trials for infantile dystonia-parkinsonism in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for infantile dystonia-parkinsonism in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

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

Rare Disease Organisation(s)

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 supporting infantile dystonia-parkinsonism:
DTDS Foundation (United States of America)
Website: https://dtdsfoundation.org/

DTDS Foundation is a global group of families committed to accelerating the science to cure Dopamine Transporter Deficiency Syndrome and to supporting each other.

Australian organisation that supports dystonia:
Dystonia Network of Australia Inc.
Website: https://dystonia.org.au/
Contact form: https://dystonia.org.au/contact-us
Dystonia Network of Australia Inc. (DNA) is the National Peak Organisation for all types of Dystonia in Australia. DNA was founded in 2014 and is a registered charity with the Australian Charities and Not-for-profits Commission. DNA’s aims are to provide appropriate, researched information for adults and children with dystonia, their carers, and interested health providers; to increase community awareness of dystonia; and to fund seminars and educational forums and assist with research into dystonia.

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

Support Services/Resources

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.

Mental Health

Please visit the ‘Mental Health’ sections listed on the National and State Services pages.

References
  1. Genetic and Rare Diseases (GARD) Information Center. Infantile dystonia-parkinsonism. Accessed 6 May 2024. https://rarediseases.info.nih.gov/diseases/10484/infantile-dystonia-parkinsonism
  2. Infantile dystonia-parkinsonism. Accessed 6 May 2024. https://www.orpha.net/en/disease/detail/238455
  3. Spaull RVV, Kurian MA. SLC6A3-Related Dopamine Transporter Deficiency Syndrome. 2017. Updated 28 September 2023. In: Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews® [internet]. Seattle (WA): University of Washington Seattle. 1993–2024. Accessed 6 May 2024. https://www.ncbi.nlm.nih.gov/books/NBK442323
  4. Online Mendelian Inheritance in Man (OMIM). #613135 Parkinsonism-dystonia 1, infantile-onset; PKDYS1. Accessed 6 May 2024. https://www.omim.org/entry/613135
Page Last Updated

29/05/2024 09:29