Autoszomális domináns
Caused by a specific change in one copy of the UBTF gene (most often p.Glu210Lys), which alters control of ribosomal RNA production in brain cells. Almost all cases arise de novo, meaning the change is new in the child.
Tünetek és jelek
Early development is usually typical, then from around two to three years of age there is gradual loss of motor and cognitive skills. Movement problems and loss of walking are common, and brain MRI can show brain shrinkage. Behaviour problems are also common.
Mit változtat a diagnózis
Care is supportive, including neurology follow-up, physiotherapy, communication aids, nutrition and treatment of movement symptoms. Specific treatments are still being researched. Most cases arise de novo, but genetic counselling and parental testing help clarify recurrence risk.
Vizsgált gének
Más néven
CONDBA; UBTF-related disorder
