Disorder "Craniofacial Dystonia"
Found 1 record
Disorder information
Disorder name:
Craniofacial Dystonia
Disoder ID:
Synonyms:
Abnormal craniofacial muscle tone
Definition:
A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| BDNF | BDNF:c.283G>A(p.Val95Met) | Penetrance | Altered incidence | Significant differences were found in the genotype and minor allele frequencies of val66met snp between blepharospasm (bsp) patients and controls (p=0.0080 and p=0.0042, respectively), and between bsp patients and patients with craniocervical derived from bsp (p=0.0010 and p=0.0002, respectively) | May increase the risk for developing BSP and may be a protective factor for preventing BSP progressing to craniocervical dystonia.more | more |
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