Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity

General Information (adopted from Orphanet):

Synonyms, Signs: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY
CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA
CHOREOATHETOSIS/SPASTICITY, EPISODIC
DYT9
Episodic choreoathetosis/spasticity
Number of Symptoms 18
OrphanetNr: 53583
OMIM Id: 601042
ICD-10: G24.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Paroxysmal dystonia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000651) Diplopia 37 / 7739
2
 (HPO:0004305) Involuntary movements 50 / 7739
3
 (HPO:0100660) Dyskinesia 19 / 7739
4
 (HPO:0002131) Episodic ataxia 16 / 7739
5
 (HPO:0002315) Headache 175 / 7739
6
 (HPO:0003401) Paresthesia 42 / 7739
7
 (HPO:0001258) Spastic paraplegia 97 / 7739
8
 (HPO:0002076) Migraine 41 / 7739
9
 (HPO:0001260) Dysarthria 329 / 7739
10
 (HPO:0001266) Choreoathetosis 57 / 7739
11
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
12
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
13
 (HPO:0001347) Hyperreflexia 363 / 7739
14
 (HPO:0001332) Dystonia 197 / 7739
15
 (HPO:0100543) Cognitive impairment 230 / 7739
16
 (HPO:0001257) Spasticity 251 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
 (HPO:0002062) Morphological abnormality of the pyramidal tract 24 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber ...
Clinical Description OMIM Auburger et al. (1996) described a large German pedigree with autosomal dominant paroxysmal choreoathetosis and spasticity. A total of 18 affected and 11 unaffected family members were clinically evaluated. Age of onset ranged from 2 to 15 years, ...
Molecular genetics OMIM In affected members of the family with DYT9 originally reported by Auburger et al. (1996), Weber et al. (2011) identified a heterozygous mutation in the SLC2A1 gene (R232C; 138140.0018). Two Australian brothers with the disorder carried a different ...