Brown-Vialetto-Van Laere Syndrome
Brown-Vialetto-Van Laere syndrome (BVVLS), is caused by homozygous or compound heterozygous mutation in the SLC52A3 gene (613350) on chromosome 20p13. Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves. The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurological signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later.
• Informasjon om indikasjonen (GeneReviews)
• Informasjon om indikasjonen (OMIM nr.: 211530)