An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances. [ NCI ]

Synonyms:

Friedreich's Ataxia

Friedreich Ataxia

This is just here as a test because I lose it

Term information

Subsets

NCIT_C165258

Contributing Source
  • Cellosaurus
Preferred Name
  • Friedreich Ataxia
Semantic Type
  • Disease or Syndrome
UMLS CUI
  • C0016719
code
  • C84718