GTR Home > Conditions/Phenotypes > Friedreich ataxia 1

Disease characteristics

Excerpted from the GeneReview: Hereditary Ataxia Overview
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene in which causative mutations occur or chromosomal locus.

Associated genes

Clinical features

  • Babinski sign
  • Abnormal echocardiogram
  • Abnormal EKG
  • Abnormality of vision evoked potentials
  • Areflexia of lower limbs
  • Dysarthria
  • Decreased sensory nerve conduction velocity
  • Impaired proprioception
  • Mitochondrial malic enzyme reduced
  • Nystagmus
  • Visual impairment
  • Optic atrophy
  • Sensory neuropathy
  • Diabetes mellitus
  • Visual field defect
  • Congestive heart failure
  • Hypertrophic cardiomyopathy
  • Pes cavus
  • Gait ataxia
  • Limb ataxia
  • Impaired vibratory sensation
  • Scoliosis
  • Decreased pyruvate carboxylase activity
  • Decreased amplitude of sensory action potentials
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