Infantile dystonia-parkinsonism

General Information (adopted from Orphanet):

Synonyms, Signs: IPD
PKDYS
Number of Symptoms 26
OrphanetNr: 238455
OMIM Id: 613135
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare parkinsonian syndrome due to genetic neurodegenerative disease
 -Rare genetic disease
Rare parkinsonian syndrome due to neurodegenerative disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000496) Abnormality of eye movement 79 / 7739
2
 (HPO:0000570) Abnormality of saccadic eye movements 12 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0001276) Hypertonia 317 / 7739
5
 (HPO:0002063) Rigidity 92 / 7739
6
 (HPO:0001300) Parkinsonism 75 / 7739
7
 (HPO:0002072) Chorea 53 / 7739
8
 (HPO:0100660) Dyskinesia 19 / 7739
9
 (HPO:0002451) Limb dystonia 16 / 7739
10
 (HPO:0002067) Bradykinesia 62 / 7739
11
 (HPO:0001337) Tremor 200 / 7739
12
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
13
 (HPO:0002194) Delayed gross motor development 37 / 7739
14
 (HPO:0001332) Dystonia 197 / 7739
15
 (HPO:0002019) Constipation 194 / 7739
16
 (HPO:0011968) Feeding difficulties 240 / 7739
17
 (HPO:0002020) Gastroesophageal reflux 101 / 7739
18
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
19
 (OMIM) Increased CSF homovanillic acid (HVA) 1 / 7739
20
 (OMIM) Normal CSF 5-hydroxyindoleacetic acid (5-HIAA) 1 / 7739
21
 (MedDRA:10026863) Masked facies 8 / 7739
22
 (HPO:0003676) Progressive disorder 148 / 7739
23
 (HPO:0002062) Morphological abnormality of the pyramidal tract 24 / 7739
24
 (OMIM) Ocular flutter 2 / 7739
25
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
26
 (HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kurian et al. (2009) reported 2 unrelated but consanguineous families in which 3 individuals had infantile onset of parkinsonism and dystonia. One family was of Pakistani origin and the other of European descent. Two patients were initially misdiagnosed ...
Molecular genetics OMIM By linkage analysis followed by candidate gene sequencing of a consanguineous Pakistani family with infantile parkinsonism-dystonia, Kurian et al. (2009) identified a homozygous mutation (L368Q; 126455.0002) in the SLC6A3 gene. A similarly affected individual from a second family ...