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3 OMIM references -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
12 signs/symptoms
Autosomal dominant cervical dystonia
Benign essential blepharospasm

ANO3 DRD5
DRD5


COMMON
GENES
DRD5



Citations in the biomedical literature:


Autosomal dominant cervical dystonia
ANO3 DRD5
Benign essential blepharospasm



Autosomal dominant cervical dystonia
Benign essential blepharospasm

Synonym(s):
- Autosomal dominant spasmodic torticollis

Synonym(s):
- Primary blepharospasm

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: unknown

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Benign essential blepharospasm

Very frequent
- Abnormal EMG / electromyogram / electropmyography
- Anomalies of eyes and vision
- Dystonia / torticollis / writer's cramp / blepharospasms
- Movement disorder
- Muscle anomalies

Frequent
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Photophobia
- Xerophthalmia / dry eyes

Occasional
- Autosomal dominant inheritance
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Tremor
- Visual loss / blindness / amblyopia


Autosomal dominant cervical dystonia

(no data available)