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Brown-Vialetto-Van Laere syndrome MeSH Supplementary Concept Data 2024


MeSH Supplementary
Brown-Vialetto-Van Laere syndrome
Unique ID
C537111
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537111
Entry Term(s)
Bulbar Palsy, Progressive, With Sensorineural Deafness
Pontobulbar Palsy With Deafness
Pontobulbar palsy and neurosensory deafness
Progressive Bulbar Palsy with Sensorineural Deafness
Heading Mapped to
*Hearing Loss, Sensorineural
*Bulbar Palsy, Progressive
Frequency
68
Note
A rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of CRANIAL NERVE palsies. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, resulting in a phenotype similar to AMYOTROPHIC LATERAL SCLEROSIS. Onset is typically in the second decade, but may be earlier or later. Hearing loss tends to precede the onset of neurologic signs. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable. Mutations in the SLC52A3 gene have been identified. OMIM: 211530
Date of Entry
2010/08/25
Revision Date
2015/08/17
Brown-Vialetto-Van Laere syndrome Preferred
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