Details of Disease | DrugMAP

General Information of Disease (ID: DISHEKOB)

Disease Name	Dyskinesia with orofacial involvement, autosomal dominant
Synonyms	ADCY5-related dyskinesia; dyskinesia, familial, with facial myokymia; FDFM
Definition	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.
Disease Hierarchy	DIS33Z2C: Dyskinesia with orofacial involvement DISD715V: Hereditary neurological disease DISOJJ2D: Movement disorder DISHEKOB: Dyskinesia with orofacial involvement, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0800028 UMLS CUI C5551343 OMIM ID 606703 MedGen ID 1790407 Orphanet ID 324588

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADCY5	TTN64VU	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADCY5	OTF2WIT0	Strong	Autosomal dominant	[1]
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References

1	Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Arch Neurol. 2012 May;69(5):630-5. doi: 10.1001/archneurol.2012.54.