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Friedreich ataxia

  • GTR Test IDHelp: GTR000558870.1
  • Last updated: 2021-12-28
  • Annual Review past due read more
  • Test version history

Clinical testHelp for Friedreich ataxia 1
Offered by Molecular Genetics Laboratory

Indication

This is a clinical test intended for Help: Diagnosis, Risk Assessment

Clinical summary

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Imported from GeneReviews

Friedreich ataxia (FRDA) is characterized by slowly progressive ataxia with onset usually before age 25 years (mean age at onset: 10-15 yrs). FRDA is typically associated with dysarthria, muscle weakness, spasticity particularly in the lower limbs, scoliosis, bladder dysfunction, absent lower-limb reflexes, and loss of position and vibration sense. Approximately two thirds of individuals with FRDA have cardiomyopathy, up to 30% have diabetes mellitus, and approximately 25% have an "atypical" presentation with later onset or retained tendon reflexes.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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

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Autosomal recessive inheritance

Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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