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Fazio-Londe disease
Epidemiology: rare
Pathology:
- neurological disease
Genetics:
- associated with defects in SLC52A3
Clinical manifestations:
- progressive weakness of the muscles innervated by cranial nerves of the lower brain stem
- variable presentation
- may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death
- may present later in life with bulbar weakness progressing to involve motor neurons throughout the neuroaxis
- dysarthria
- dysphagia
- facial weakness
- tongue weakness
- fasciculations of the tongue & facial muscles
General
genetic disease of the nervous system
Database Correlations
OMIM 211500
References
- OMIM :accession 211500