Dystonia 16

General Information (adopted from Orphanet):

Synonyms, Signs: DYT16
Early-onset dystonia parkinsonism
Number of Symptoms 25
OrphanetNr: 210571
OMIM Id: 612067
ICD-10: G24.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Infancy
Childhood
[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:0000473) Torticollis 42 / 7739
2
 (HPO:0002544) Retrocollis 5 / 7739
3
 (HPO:0001347) Hyperreflexia 363 / 7739
4
 (HPO:0000750) Delayed speech and language development 197 / 7739
5
 (HPO:0012049) Laryngeal dystonia 7 / 7739
6
 (HPO:0001332) Dystonia 197 / 7739
7
 (HPO:0002451) Limb dystonia 16 / 7739
8
 (HPO:0001300) Parkinsonism 75 / 7739
9
 (HPO:0004305) Involuntary movements 50 / 7739
10
 (HPO:0001288) Gait disturbance 318 / 7739
11
 (HPO:0002067) Bradykinesia 62 / 7739
12
 (HPO:0001270) Motor delay 322 / 7739
13
 (HPO:0001260) Dysarthria 329 / 7739
14
 (HPO:0002174) Postural tremor 22 / 7739
15
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
16
 (HPO:0002015) Dysphagia 301 / 7739
17
 (HPO:0100543) Cognitive impairment rare [HPO:skoehler] 230 / 7739
18
 (HPO:0012514) Lower limb pain 1 / 7739
19
 (MedDRA:10061991) Grimacing 4 / 7739
20
 (HPO:0002062) Morphological abnormality of the pyramidal tract 24 / 7739
21
 (OMIM) Oromandibular dyskinesia 2 / 7739
22
 (HPO:0003676) Progressive disorder 148 / 7739
23
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
 (OMIM) Upper limb dystonia 2 / 7739
25
 (OMIM) Opisthotonic posturing 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Camargos et al. (2008) reported 2 unrelated consanguineous families from Brazil in which a total of 6 individuals had early-onset dystonia-parkinsonism. Patients had onset of gait abnormalities and leg pain around age 12 years, followed by dysphagia, spasmodic ...
Molecular genetics OMIM In affected members of 2 unrelated Brazilian families with early-onset dystonia-16, Camargos et al. (2008) identified a homozygous mutation in the PRKRA gene (603424.0001). Haplotype analysis suggested a founder effect.

Seibler et al. (2008) identified a ...