Brown-Vialetto-van Laere syndrome

Brown-Vialetto-van Laere syndrome is a motor neuron disorder in which patients suffer from respiratory failure, aural deafness, and progressive ponto-bulbar paralysis. The period of manifestation varies from patient to patient between infancy and adolescence.

In most cases, the hearing loss appears as the first symptom and can remain the only symptom over a longer period of time, until then bulbar paralysis and muscle weaknesses begin. Children who show the first symptoms before the age of four often suffer from respiratory difficulties due to diaphragmatic paralysis and a highly progressive course of the disease.

The older the patients are at manifestation, the higher their life expectancy. Children who become ill before the age of four usually die after one year, while children between the ages of four and ten may live more than ten years.

Mutations in the genes SLC52A2 and SLC52A3 are seen as the cause of the autosomal recessive syndrome. These genes are related to the riboflavin transporter proteins, whose role in the nervous system is not yet known.