Blepharospasm, benign essential, susceptibility to

MedGen UID:: 1640286
•Concept ID:: C4692845
•: Finding

Synonym:	BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO

Gene (location): Gene(s) directly associated with this condition or phenotype.	DRD5 (4p16.1)

Monarch Initiative:	MONDO:0100532
OMIM®:	606798

Clinical features

From HPO

Blepharospasm

MedGen UID:: 599
•Concept ID:: C0005747
•: Disease or Syndrome

A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids.

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Abnormality of head or neck
- Blepharospasm

Recent clinical studies

Etiology

Longitudinal predictors of health-related quality of life in isolated dystonia.

Junker J, Hall J, Berman BD, Vidailhet M, Roze E, Bäumer T, Malaty IA, Shukla AW, Jankovic J, Reich SG, Espay AJ, Duque KR, Patel N, Perlmutter JS, Jinnah HA; Dystonia Coalition Study Group, Brandt V, Brüggemann N
J Neurol 2024 Feb;271(2):852-863. Epub 2023 Oct 15 doi: 10.1007/s00415-023-12022-4. PMID: 37839041 Free PMC Article

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Blepharospasm, benign essential, susceptibility to

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