Disease - Fazio-Londe disease
- DefinitionA rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles.
- AcronymFALOND
- Alternative names
- Cross references
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Browse 1 entry- Solute carrier family 52, riboflavin transporter, member 3 · Gene: SLC52A3 (C20orf54, RFT2, RFVT3) · Homo sapiens (Human) · 469 amino acids · Evidence at protein level · Annotation score: 5/5