Autoszomális recesszív
Caused by changes in both copies of the TRAPPC4 gene, part of the TRAPP complex that regulates protein trafficking between cell compartments. Many reported families share the same splice variant.
Tünetek és jelek
Severe developmental delay and intellectual disability, early-onset seizures, small head size (microcephaly) and muscle stiffness (spasticity) that becomes progressive. Brain imaging shows atrophy of the brain and cerebellum. Facial dysmorphism and muscle involvement have also been reported.
Mit változtat a diagnózis
Care is supportive, with seizure treatment, physiotherapy, management of spasticity and feeding support. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing can be offered.
Vizsgált gének
Más néven
NEDESBA
