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Genetic and Rare Diseases Information Center (GARD)

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Brown-Vialetto-Van Laere syndrome


Other Names for this Disease

  • Pontobulbar palsy and neurosensory deafness
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

What causes Brown-Vialetto-Van Laere syndrome? Is genetic testing for this syndrome available? How can I learn more about research?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Brown-Vialetto-Van Laere syndrome?

Brown-Vialetto-Van Laere syndrome (BVVL) is a type of degenerative nerve disease. Initial symptoms occur in infancy to early adulthood and progress with time. The rate of progression can vary from person to person. The syndrome is generally characterized by sensorineural deafness, paralysis of the cranial nerves, and lower and upper motor neuron disease. Signs and symptoms may include vocal cord paralysis, drooping eyelids, facial weakness, slurred speech, difficulty swallowing, diminishing eye sight, neck and shoulder weakness, weakness in the arms and legs, autonomic dysfunction, and difficulty breathing. The cause of the syndrome is currently unknown and treatment is supportive. Both genetic and sporadic cases have been reported in the medical literature.[1]
Last updated: 3/23/2010

What causes Brown-Vialetto-Van Laere syndrome?

The cause of Brown-Vialetto-Van Laere syndrome is currently unknown.
Last updated: 12/3/2008

Is Brown-Vialetto-Van Laere syndrome genetic?

Both sporadic and genetic cases of Brown-Vialetto-Van Laere syndrome have been reported in the literature. The term “sporadic” denotes either a genetic disorder that occurs for the first time in a family due to a new mutation, or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family.  Most of the genetic cases reported in the literature appear to be inherited in an autosomal recessive fashion. However, autosomal dominant and X-linked inheritance has also been suggested. Click here to learn more about genetic disease and ways in which medical conditions can be passed through families.
Last updated: 12/3/2008

Is genetic testing available for Brown-Vialetto-Van Laere syndrome?

The underlying genetic defect that causes Brown-Vialetto-Van Laere syndrome has not yet been identified. Genetic testing for this syndrome is not available at this time.
Last updated: 12/3/2008

Who can I talk to if I feel I or a loved one may have Brown-Vialetto-Van Laere syndrome?

If you feel that you or someone you know may have Brown-Vialetto-Van Laere syndrome we recommend that you speak with a neurologist, pediatric neurologist, and/or genetics professional. To find a specialist in your area, we recommend that you contact your primary doctor for a referral.

The following online resources can also help you find healthcare professionals in your area.

The American Academy of Neurologist has a tool for finding local neurologists. You can find this tool by visiting the following link:
http://www.thebrainmatters.org/index.cfm?key=1.2.2

The American Academy of Pediatrics has a tool for locating pediatricians in a variety of sub-specialities including neurology. You can find the tool by visiting the following link:
http://www.aap.org/referral/

Geneclinics.org  has a searchable directory of US and international genetics clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you. Click here to learn more about genetic consultations.
http://www.geneclinics.org/
Last updated: 12/3/2008

How can I learn more about research studies enrolling people with Brown-Vialetto-Van Laere syndrome and their families?

The BVVL International has a Brown-Vialetto-Van Laere disease registry that is collecting information from patients and their families. The registry was developed to hasten research on this rare syndrome. To learn more about the disease registry click here. To learn more about research progress or to participate in ongoing research contact info@bvvlinternational.org 
Last updated: 12/3/2008

References
  • Sathasivam S. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis. 2008;
Other Names for this Disease
  • Pontobulbar palsy and neurosensory deafness
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.