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Brown-Vialetto-Van Laere syndrome

Name: Brown-Vialetto-Van Laere syndrome
Description: A rare neurological disorder of unknown etiology characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in the last 100 years, with a female to male ratio of approximately 3:1. Age of onset varies from infancy to the third decade. BVVL most frequently presents with sensorineural deafness, usually progressive and severe. Lower cranial nerve involvement and lower and upper motor neuron limb signs are common. Other features include respiratory compromise, limb weakness, slurring of speech, facial weakness, and neck and shoulder weakness. Optic atrophy, retinitis pigmentosa, macular hyperpigmentation, autonomic dysfunction and epilepsy may also occur. Approximately 50% of cases are sporaide and 50% familial, of which autosomal recessive is suggested.[1]
Synonym(s): PROGRESSIVE BULBAR PALSY WITH SENSORINEURAL DEAFNESS, PONTOBULBAR PALSY WITH DEAFNESS, Pontobulbar palsy and neurosensory deafness
Abbreviation: BVVL
Super-category: Nervous system disease
URL: Sathasivam S. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis. 2008 Apr 17;3:9.
PMID: PMID 18416855
Publication link: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2346457/?tool=pubmed
Id: nlx_29955
Link to OWL / RDF: Download this content as OWL/RDF


References

  1. Sathasivam S (2008) Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis 3: 9 PubMed
  • UMLSCUI: C0796274
  • xref: C537111 (MeSH ID)

Contributors

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Facts about Brown-Vialetto-Van Laere syndromeRDF feed
AbbrevBVVL  +
CurationStatusuncurated  +
DefiningCitationSathasivam S. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis. 2008 Apr 17;3:9.  +
DefinitionA rare neurological disorder of unknown et A rare neurological disorder of unknown etiology characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in the last 100 years, with a female to male ratio of approximately 3:1. Age of onset varies from infancy to the third decade. BVVL most frequently presents with sensorineural deafness, usually progressive and severe. Lower cranial nerve involvement and lower and upper motor neuron limb signs are common. Other features include respiratory compromise, limb weakness, slurring of speech, facial weakness, and neck and shoulder weakness. Optic atrophy, retinitis pigmentosa, macular hyperpigmentation, autonomic dysfunction and epilepsy may also occur. Approximately 50% of cases are sporaide and 50% familial, of which autosomal recessive is suggested. of which autosomal recessive is suggested.
Idnlx_29955  +
LabelBrown-Vialetto-Van Laere syndrome  +
ModifiedDate17 February 2011  +
PMID18416855  +
PublicationLinkhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2346457/?tool=pubmed  +
SuperCategoryNervous system disease  +
SynonymPROGRESSIVE BULBAR PALSY WITH SENSORINEURAL DEAFNESS  +, PONTOBULBAR PALSY WITH DEAFNESS  +, and Pontobulbar palsy and neurosensory deafness  +