Brown-Vialetto-Van Laere Syndrome

Common Name(s)

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brown-Vialetto-Van Laere Syndrome" for support, advocacy or research.

Brown-Vialetto-Van Laere International

BVVL International is the first web-based resource tool where physicians, researchers, and families interested in learning more about Brown-Vialetto-Van Laere syndrome.

Last Updated: 10 Jan 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brown-Vialetto-Van Laere Syndrome" for support, advocacy or research.

Brown-Vialetto-Van Laere International

BVVL International is the first web-based resource tool where physicians, researchers, and families interested in learning more about Brown-Vialetto-Van Laere syndrome.

http://www.bvvlinternational.org

Last Updated: 10 Jan 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Brown-Vialetto-Van Laere Syndrome" returned 7 free, full-text research articles on human participants. First 3 results:

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.
 

Author(s): Atchayaram Nalini, Amelie Pandraud, Kin Mok, Henry Houlden

Journal: J. Neurol. Sci.. 2013 Nov;334(1-2):119-22.

 

Madras motor neuron disease (MMND), MMND variant (MMNDV) and Familial MMND (FMMND) have a unique geographic distribution predominantly reported from Southern India. The characteristic features are onset in young, weakness and wasting of limbs, multiple lower cranial nerve palsies ...

Last Updated: 11 Nov 2013

Go To URL
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
 

Author(s): Tobias B Haack, Christine Makowski, Yoshiaki Yao, Elisabeth Graf, Maja Hempel, Thomas Wieland, Ulrike Tauer, Uwe Ahting, Johannes A Mayr, Peter Freisinger, Hiroki Yoshimatsu, Ken Inui, Tim M Strom, Thomas Meitinger, Atsushi Yonezawa, Holger Prokisch

Journal: J. Inherit. Metab. Dis.. 2012 Nov;35(6):943-8.

 

Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy. Mutations in SLC52A3 (formerly C20orf54), coding for riboflavin transporter 2 (hRFT2), have been identified as the molecular ...

Last Updated: 15 Oct 2012

Go To URL
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.
 

Author(s): Annet M Bosch, Nico G G M Abeling, Lodewijk Ijlst, Hennie Knoester, W Ludo van der Pol, Alida E M Stroomer, Ronald J Wanders, Gepke Visser, Frits A Wijburg, Marinus Duran, Hans R Waterham

Journal: J. Inherit. Metab. Dis.. 2011 Feb;34(1):159-64.

 

We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a profile of plasma acylcarnitines and urine organic acids suggestive of a mild form of the multiple acyl-CoA ...

Last Updated: 25 Jan 2011

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Brown-Vialetto-Van Laere Syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
 

Author(s): Annet M Bosch, Kevin Stroek, Nico G Abeling, Hans R Waterham, Lodewijk Ijlst, Ronald J A Wanders

Journal:

 

The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity. Recently it was demonstrated that in some patients ...

Last Updated: 11 Dec 2012

Go To URL
Brown-Vialetto-Van Laere syndrome.
 

Author(s): Sivakumar Sathasivam

Journal:

 

The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is approximately 3:1. The age of ...

Last Updated: 28 Apr 2008

Go To URL
A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance.
 

Author(s): José Augusto Malheiros, Sarah Teixeira Camargos, José Teotonio de Oliveira, Francisco E C Cardoso

Journal: Arq Neuropsiquiatr. 2007 Mar;65(1):32-5.

 

We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission. The age at onset of the illness ranged from 12 to 20 years old. The ...

Last Updated: 10 Apr 2007

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.