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Brown-Vialetto-Van Laere syndrome
Classification:
- type 1 (shown here)
Epidemiology:
- rare
Pathology:
- neurologic disorder
Genetics:
- autosomal recessive
- associated with defects in SLC52A3 (riboflavin transporter 2) Cinical manifestations:
- develops over a relatively short period of time in a previously healthy individual
- sensorineural hearing loss
- may precede the neurological signs
- cranial nerve palsies
- lower cranial nerve (CN3 - CN6) palsies
- long tract signs
- lower motor neuron signs,
- cerebellar ataxia
- invariably progressive
- decline is variable within & between families. With
Differential diagnosis:
- may resemble amyotrophic lateral sclerosis
Complications:
- diaphragmatic weakness
- respiratory insufficiency
- recurrent pneumonia
- respiratory failure
General
genetic syndrome (multisystem disorder)
genetic disease of the nervous system
Database Correlations
OMIM 211530
References
- OMIM :accession 211530