VPS11-Related Leukodystrophy

Příznaky a projevy

Developmental delay in infancy with reduced myelin (hypomyelination) on brain scans. Low muscle tone often progresses to stiffness and spasticity, with seizures and small head size. Gradual loss of vision has also been reported.

Co se diagnózou změní

Seizure treatment, physiotherapy, feeding support and other supportive care led by a neurologist. Both parents are usually carriers, so genetic counselling and carrier testing for relatives, particularly in Ashkenazi Jewish families, are offered.

Analyzované geny