TNR-Related Neurodevelopmental Disorder with Spasticity and Transient Opisthotonus
Autoszomális recesszív
Caused by changes in both copies of TNR (tenascin-R), a protein of the brain's extracellular matrix involved in nerve connections and myelination.
Tünetek és jelek
Developmental delay, often marked, with low tone of the trunk and stiffness (spasticity) of the legs. In infancy there are episodes of backward arching (opisthotonus) that fade with time. The condition does not usually progress.
Mit változtat a diagnózis
Physiotherapy, management of spasticity, mobility aids and developmental support. Parents are usually carriers, so carrier testing for relatives and genetic counselling are available.
Vizsgált gének
