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familial dyskinesia and facial myokymia

Disease Summary
Associated Targets (1)
Tchem

1


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Mondo Description Familial dyskinesia and facial myokymia (FDFM) is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.
Uniprot Description A disorder characterized by predominantly perioral and periorbital myokymia, and face, neck and upper limb dystonic/choreic movements. Initially paroxysmal and worsened by stress, the dyskinetic episodes become nearly constant by the end of the third decade of life, but in some individuals, they may diminish in frequency and severity at older ages.
Mondo Term and Equivalent IDs
MONDO:0011707:  familial dyskinesia and facial myokymia
GARD:0012722: 
MESH:C564676: 
Orphanet:324588: 
SCTID:763352005: 
UMLS:C1847627: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found