Conditions / Genetic
Fazio-Londe disease
info · Genetic
A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13.
Signs and symptoms
- Dysphagia
- Progressive inspiratory stridor
- Bulbar palsy
- Diaphragmatic weakness
- Ptosis
- Generalized hyperreflexia
- Facial diplegia
Also known as: riboflavin transporter deficiency neuronopathy