Brown-Vialetto-Van Laere syndrome
What is Brown-Vialetto-Van Laere syndrome?
Brown-Vialetto-Van Laere syndrome (BVVLS) is a progressive genetic condition that happens when nerves slowly become paralyzed and cannot send information between the brain and regions of the head and neck (cranial nerve palsy). BVVLS is also sometimes called "bulbar palsy." Individuals with this condition may begin to show symptoms anywhere from infancy to adulthood. The first symptom is usually hearing loss. Other symptoms include being unable to speak due to vocal cord paralysis, droopy eyelids, slurred speech, vision loss, difficulties breathing and swallowing, and muscle weakness (particularly affecting the face, limbs, neck, and shoulders). In 2010, the discovery of the genes responsible for BVVLS (SLC52A3 and SLC52A2) led to the identification of riboflavin (also known as vitamin B2) as a possible treatment for many people with BVVLS.
There are two types of BVVLS: type 1 and type 2 which cause the same health problems. The main difference between the two types is that type 1 is caused by changes or mutations in SLC52A3 while type 2 is caused by changes or mutations in SLC52A2.
In order to learn more about the diagnosis of BVVLS it can be useful to speak with the medical geneticist or genetic counselor. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.
To learn more about the treatment of BVVLS and treatment with riboflavin, it can be useful to speak with a metabolic dietitian. Find a metabolic dietitian near you by visiting the GMDI Find a Metabolic Dietitian webpage.
To learn more about living with BVVLS, visit the main BVVLS support group the Thisbe and Noah Scott Foundation
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/brown-vialetto-van-laere-syndrome/overview/4368 • DATE UPDATED: 2019-07-10