Blepharospasm, Primary Benign malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases
Aliases & Descriptions for Blepharospasm, Primary Benign:
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Eye diseases
NINDS:47 Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. BEB begins gradually with increased frequency of eye blinking often associated with eye irritation. Other symptoms may include increasing difficulty in keeping the eyes open, and light sensitivity. Generally, the spasms occur during the day, disappear in sleep, and reappear after waking. As the condition progresses, the spasms may intensify, forcing the eyelids to remain closed for long periods of time, and thereby causing substantial visual disturbance or functional blindness. It is important to note that the blindness is caused solely by the uncontrollable closing of the eyelids and not by a dysfunction of the eyes. BEB occurs in both men and women, although it is especially common in middle-aged and elderly women.
MalaCards based summary: Blepharospasm, Primary Benign, also known as benign essential blepharospasm, is related to blepharospasm, and has symptoms including blepharospasm An important gene associated with Blepharospasm, Primary Benign is DRD5 (Dopamine Receptor D5). Affiliated tissues include eye.
UniProtKB/Swiss-Prot:68 Benign essential blepharospasm: A primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness.
Genetics Home Reference:24 Benign essential blepharospasm is a condition characterized by abnormal blinking or spasms of the eyelids. This condition is a type of dystonia, which is a group of movement disorders involving uncontrolled tensing of the muscles (muscle contractions), rhythmic shaking (tremors), and other involuntary movements. Benign essential blepharospasm is different from the common, temporary eyelid twitching that can be caused by fatigue, stress, or caffeine.
OMIM:50 Blepharospasm is a primary focal dystonia affecting the orbicularis oculi muscles, usually beginning in middle age.... (606798) more...
Diseases in the Blepharospasm family:
Diseases related to Blepharospasm, Primary Benign via text searches within MalaCards or GeneCards Suite gene sharing:
Drugs for Blepharospasm, Primary Benign (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
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MalaCards organs/tissues related to Blepharospasm, Primary Benign:34
Search GEO for disease gene expression data for Blepharospasm, Primary Benign.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet