Orphanet: Infantile dystonia parkinsonism

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

Infantile dystonia-parkinsonism

ORPHA:238455

Classification level: Disorder

Synonym(s):
- IPD
- PKDYS
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: G24.8
ICD-11: 8A02.12
OMIM: 613135
UMLS: C2751067
MeSH: -
GARD: 10484
MedDRA: -

Summary

Epidemiology

The prevalence is unknown. Only eight cases have been reported to date.

Clinical description

The disease presents soon after birth with irritability and feeding difficulties, followed by progressive parkinsonism (manifesting with resting tremor and bradykinesia), dystonia, axial hypotonia, limb hypertonicity and pyramidal tract signs. Clinically it can resemble cerebral palsy. Global developmental delay and impaired motor development occur during childhood, and patients can have trouble communicating. Treatment with L-dopa is ineffective, and death was reported in one case.

Etiology

IPD is caused by mutations in the SLC6A3 gene (5p15.33), which encodes a human dopamine transporter mediating the active reuptake of extracelluar dopamine. Mutations in this gene lead to a reduction in the level of mature dopamine transporter and therefore an impairment in dopaminergic neurotransmission.

Genetic counseling

IPD is inherited in an autosomal recessive manner. Genetic counseling is possible and is recommended.

Expert reviewer(s): Dr Christoph KAMM - Last update: November 2013

A summary on this disease is available in Deutsch (2013) Español (2013) Français (2013) Italiano (2013) Nederlands (2013) Russian (2013, pdf) Polski (2013, pdf) Polski (2013)

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)