Friedreich Ataxia

UPSC Relevance: Health Care

What is it?

Friedreich ataxia is an autosomal recessive neurodegenerative disorder.

It results from mutations involving the FXN gene, causing deficiency of the mitochondrial protein frataxin.

Genetics

  • Gene → FXN

  • Chromosome → 9

  • Mutation → GAA repeat expansion

  • Inheritance → autosomal recessive

Clinical Features

Major manifestations:

  • Progressive ataxia

  • Dysarthria

  • Loss of reflexes

  • Sensory impairment

  • Muscle weakness

  • Scoliosis

  • Hypertrophic cardiomyopathy

  • Diabetes mellitus

Important Pathology

It involves mitochondrial dysfunction and affects:

  • Nervous system

  • Peripheral sensory pathways

  • Cerebellar pathways

  • Heart

UPSC/Medical Key Pointer

Compare:

DiseaseInheritanceRepeat
HuntingtonAutosomal dominantCAG
Friedreich ataxiaAutosomal recessiveGAA

Very important exam comparison.