VPS11-Related Neurological Disorder
Autosomal recessive
Caused by changes in both copies of VPS11, which encodes part of a complex that directs material to lysosomes for recycling. A founder change is found in people of Ashkenazi Jewish ancestry.
Signs and symptoms
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.
What a diagnosis changes
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.
Genes analysed
Includes 2 related subtypes ↓Hide subtypes ↑
- dystonia 32
- leukodystrophy, hypomyelinating, 12
MONDO:0100617Sources: [1][2]
