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Category:Brown-Vialetto-Van Laere syndrome
Abbrev BVVL  +
CurationStatus uncurated  +
DefiningCitation Sathasivam S. Brown-Vialetto-Van Laere syndrome. Orphanet J Rare Dis. 2008 Apr 17;3:9.  +
Definition A 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.
Id nlx_29955  +
Label Brown-Vialetto-Van Laere syndrome  +
Modification dateThis property is a special property in this wiki. 30 July 2014 00:48:27  +
ModifiedDate 30 July 2014  +
PMID 18416855  +
PublicationLink http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2346457/?tool=pubmed  +
SuperCategory Nervous system disease  +
Synonym PROGRESSIVE BULBAR PALSY WITH SENSORINEURAL DEAFNESS  +, PONTOBULBAR PALSY WITH DEAFNESS  +, Pontobulbar palsy and neurosensory deafness  +
Xref C537111 (MeSH ID) +
Categories Nervous system disease
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