Autoszomális domináns
Caused by changes in one copy of ADCY5, which makes an enzyme involved in cell signalling. Most cases arise de novo, and rare families show recessive inheritance.
Tünetek és jelek
A mix of involuntary movements, including chorea, dystonia and jerks, often involving the face, usually starts in infancy or childhood. Episodes of worse movements are typical around sleep and waking and with stress or illness. Low muscle tone and delayed motor milestones are common. Less often the condition is milder, with little effect on walking.
Mit változtat a diagnózis
Care is guided by a movement disorder specialist, with treatment options considered case by case, and speech, occupational and physical therapy as needed. Many cases are de novo, but a parent may carry the change, sometimes in only some cells, so genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- dyskinesia with orofacial involvement, autosomal dominant
- dyskinesia with orofacial involvement, autosomal recessive
