Symptoms
The symptoms of Brown-Vialetto-Van Laere syndrome may begin in infancy or not until the third decade of life. Symptoms include:- sensorineural deafness (failure of the nerves responsible for hearing) that gets worse over time and becomes severe
- limb weakness
- difficulty breathing
- slurred speech and difficulty swallowing
- facial weakness
- neck and shoulder weakness
Diagnosis
The diagnosis of Brown-Vialetto-Van Laere syndrome is based on the symptoms. There is no special test to confirm the diagnosis. Some tests may be done to exclude other causes of the symptoms, or other similar disorders such as amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease). Since BVVL includes deafness, a hearing test (audiology exam) will be done.Treatment
Treatment of Brown-Vialetto-Van Laere syndrome is based on symptoms such as difficulty breathing, speaking, or swallowing. Treatment with steroids and intravenous immunoglobulin has been tried in some cases, but not all individuals benefited from this treatment. Based on the 58 known cases, one-third of individuals with BVVL survive for 10 years or longer after diagnosis.Support
If you or someone you know has this condition, you may want to contact BVVL International, a world-wide organization that advocates for patients and families. They also are recruiting for a DNA patient registry.Sources:
Sathasivam, Sivakumar. "Brown-Vialetto-Van Laere syndrome." Orphanet Journal of Rare Diseases, 17 April 2008.
Nair, Pratibha. "Bulbar Palsy, Progressive, with Sensorineural
Deafness." Center for Arab Genomic Studies 18 Jul 2006.
Puri, V., A. Rohtagi, & P.S. Parihar. "Ponto-Bulbar Palsy with Deafness (Vialetto-Van Laere Syndrome)." Indian Pediatrics 33(1996): 140-142.
