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

More general terms

• genetic disease of the nervous system

Database

• OMIM: https://mirror.omim.org/entry/211500