Brown-Vialetto-Van Laere syndrome

Overview

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

References
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More Overview Content

What is Brown-Vialetto-Van Laere syndrome called most often by doctors?

What is Brown-Vialetto-Van Laere syndrome 1 called most often by doctors?

What is Brown-Vialetto-Van Laere syndrome 1?

What is Brown-Vialetto-Van Laere syndrome 2?

What is Brown-Vialetto-Van Laere syndrome 2 called most often by doctors?

Are there other names for Brown-Vialetto-Van Laere syndrome?

How many people have Brown-Vialetto-Van Laere syndrome?

What is the usual abbreviation for Brown-Vialetto-Van Laere syndrome?

What is the usual abbreviation for Brown-Vialetto-Van Laere syndrome 1?

What is the usual abbreviation for Brown-Vialetto-Van Laere syndrome 2?

What is Brown-Vialetto-Van Laere syndrome called most often by doctors?

Brown-Vialetto-Van Laere syndrome may be referred to by most doctors as Brown-Vialetto-Van Laere syndrome or BVVLS. Some doctors may categorize the condition into Brown-Vialetto-Van Laere syndrome 1 and Brown-Vialetto-Van Laere syndrome 2 based on the affected gene. Brown-Vialetto-Van Laere syndrome 1 is caused by abnormalities (mutations) in the SLC52A3 gene, while Brown-Vialetto-Van Laere syndrome 2 is caused by abnormalities in the SLC52A2 gene. It may also be called riboflavin transporter deficiency neuropathy.

References
What is Brown-Vialetto-Van Laere syndrome 1 called most often by doctors?

Brown-Vialetto-Van Laere syndrome 1 may be generally referred to by most doctors as Brown-Vialetto-Van Laere syndrome or BVVLS. Brown-Vialetto-Van Laere syndrome 1 and 2 lead to similar symptoms, but are caused by different genes. Brown-Vialetto-Van Laere syndrome 1 is caused by changes in the SLC52A3 gene, while Brown-Vialetto-Van Laere syndrome 2 is caused by changes in the SLC52A2 gene.

References
What is Brown-Vialetto-Van Laere syndrome 1?

Brown-Vialetto-Van Laere syndrome (BVVLS) type 1 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). BVVLS type 1 is caused by changes or mutations in SLC52A3. Riboflavin (also known as vitamin B2) is currently being studied 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 type1 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 type 1 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

References
What is Brown-Vialetto-Van Laere syndrome 2?

Brown-Vialetto-Van Laere syndrome (BVVLS) type 2 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). 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). BVVLS type 2 is caused by changes or mutations in SLC52A2. Riboflavin (also known as vitamin B2) is currently being studied 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 type 2 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 type 2 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

References
What is Brown-Vialetto-Van Laere syndrome 2 called most often by doctors?

Brown-Vialetto-Van Laere syndrome 2 may be generally referred to by most doctors as Brown-Vialetto-Van Laere syndrome or BVVLS. Brown-Vialetto-Van Laere syndrome 1 and 2 lead to similar symptoms, but are caused by different genes. Brown-Vialetto-Van Laere syndrome 1 is caused by changes in the SLC52A3 gene, while Brown-Vialetto-Van Laere syndrome 2 is caused by changes in the SLC52A2 gene.

References
Are there other names for Brown-Vialetto-Van Laere syndrome?

Other names for Brown-Vialetto-Van Laere syndrome include:

  • pontobulbar palsy and sensorineural deafness
  • riboflavin transporter deficiency neuronopathy
References
How many people have Brown-Vialetto-Van Laere syndrome?

Brown-Vialetto-Van Laere syndrome is a rare condition. So far, less than 100 cases have been reported worldwide. To find others with this rare genetic condition, visit the main BVVLS support group the Thisbe and Noah Scott Foundation.

What is the usual abbreviation for Brown-Vialetto-Van Laere syndrome?

The usual abbreviation for Brown-Vialetto-Van Laere syndrome is BVVLS.

References
What is the usual abbreviation for Brown-Vialetto-Van Laere syndrome 1?

The usual abbreviation for Brown-Vialetto-Van Laere syndrome 1 is BVVLS1.

References
What is the usual abbreviation for Brown-Vialetto-Van Laere syndrome 2?

The usual abbreviation for Brown-Vialetto-Van Laere syndrome 2 is BVVLS2.

References

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