WebNM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys) AND Brown-Vialetto-van Laere syndrome 2 Clinical significance: Conflicting interpretations of pathogenicity, Likely pathogenic(1); Uncertain significance(1) (Last evaluated: Jun 26, 2024) WebFeb 1, 2008 · Brown-Vialetto-Van Laere syndrome is a rare, autosomal, recessive neurological condition caused by variants in the riboflavin transporter genes SLC52A2 and SLC52A3. Here, we report on three cases.
Entry - #614707 - BROWN-VIALETTO-VAN LAERE …
WebThe Brown–Vialetto–Van Laere syndrome (BVVL) is a rare neurological disorder of unknown etiology, characterized by progressive pontobulbar palsy associated with sensorineural deafness. Citation 6. In our patient sensorineural deafness is the first symptom of the disease. Hearing loss has been consistently described at the onset of the ... WebSystemic Features: Rapidly progressive muscle weakness and ataxia present in childhood. Early development may be normal but the first symptoms usually appear by age 2 or 3 years of age. Cognition is … town of newfane supervisor
Brown-Vialetto-Van Laere Syndrome - an overview
WebMar 1, 2012 · 1. Introduction. The Brown–Vialetto–Van Laere syndrome (BVVL) is a rare disorder characterized by sensorineural deafness followed or accompanied by cranial nerve disorders, usually involving the motor components of the facial and glossopharyngeal to hypoglossal nerves.1, 2 It was first described by Brown in 1894, 3 and later by Vialetto … WebDec 28, 2024 · Abstract. Brown–Vialetto–Van Laere (BVVL) syndrome results in childhood-onset, progressive dysfunction of the anterior horn cells with sensorineural hearing loss. The brunt of the disease is often on the cranial nerves but limb amyotrophy can occur. Peripheral sensory involvement has been recently described. WebWrist extension 0/0.5a 1/2a Hip flexion 23/23a 32/34 Knee extension 23/21a 34/32 Knee flexion 19/22a 25/26 Foot dorsiflexion 18/18a 27/31 a Values that are low for age based on clinical experience (P.T.G.). Glossary BVVL = Brown-Vialetto-Van Laere syndrome; CMAP = compound muscle action potential; FAD = flavin adenine town of newfane town hall