Blepharospasm, Primary Benign malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases, Blood diseases
Aliases & Descriptions for Blepharospasm, Primary Benign:
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Neuronal diseases, Blood diseases
NIH Rare Diseases:47 Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by abnormal blinking or spasms of the eyelids. It is a form of dystonia, a group of movement disorders involving uncontrolled tensing of the muscles (contractions), rhythmic shaking (tremors), and other involuntary movements. BEB occurs in both men and women, although it is especially common in middle-aged women. Initial symptoms include an increased frequency of blinking, dry eyes, and eye irritation. As the condition progresses, spasms of the muscles surrounding the eyes cause involuntary winking or squinting and increasing difficulty keeping eyes open, which can lead to vision impairment. In more than half of all people with BEB, the symptoms affect other facial muscles and muscles in other areas of the body. When people with BEB also experience involuntary muscle spasms affecting the tongue and jaw, this is known as Meige syndrome. The cause of BEB is unknown; however, some cases appear to run through families. Although there is no cure for BEB, symptoms can be treated using various methods including botulinum toxin injections. Last updated: 11/2/2016
MalaCards based summary: Blepharospasm, Primary Benign, also known as benign essential blepharospasm, is related to blepharospasm and meige syndrome, and has symptoms including eyelid dystonia, oromandibular dystonia and excessive eye blinking. An important gene associated with Blepharospasm, Primary Benign is DRD5 (Dopamine Receptor D5). The drugs botulinum toxin type a and cyproheptadine hydrochloride monohydrate have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and brain.
UniProtKB/Swiss-Prot:69 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.
NINDS:48 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
Genetics Home Reference:25 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:51 Blepharospasm is a primary focal dystonia affecting the orbicularis oculi muscles, usually beginning in middle age.... (606798) more...
Human phenotypes related to Blepharospasm, Primary Benign:63
UMLS symptoms related to Blepharospasm, Primary Benign:eyelid dystonia, oromandibular dystonia, excessive eye blinking, ocular signs and symptoms nec, myoclonus, eyelid, scotoma, scintillating, lid lag, spasmodic torticollis, photophobia, torticollis, spasm, ophthalmoplegia, myoclonus
Drugs for Blepharospasm, Primary Benign (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 40)
Interventional clinical trials:(show all 39)
Search NIH Clinical Center for Blepharospasm, Primary Benign
Inferred drug relations via UMLS67/NDF-RT45:
MalaCards organs/tissues related to Blepharospasm, Primary Benign:35
Eye, Tongue, Brain, Testes
Search GEO for disease gene expression data for Blepharospasm, Primary Benign.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet