Autoszomális recesszív
A neuronopathy caused by biallelic variants in SLC52A2 or SLC52A3, with sensorineural hearing loss, bulbar palsy, optic atrophy and respiratory weakness.
Mit változtat a diagnózis
High-dose oral riboflavin can improve outcomes, especially when started early.
Más néven
Brown-Vialetto-van Laere syndrome; Brown-Vialetto-Van Laere syndrome 1; BVVLS; BVVLS1; disorder of riboflavin transmembrane transporter activity; Fazio-Londe syndrome; pontobulbar palsy and neurosensory deafness; progressive bulbar palsy with sensorineural deafness; riboflavin transmembrane transporter activity disease; sensorineural hearing loss-pontobulbar palsy syndrome
4 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Brown-Vialetto-van Laere syndrome 1
- Brown-Vialetto-van Laere syndrome 2
- progressive bulbar palsy
- progressive bulbar palsy of childhood
