Synopsis
Recognise Friedreich ataxia and other inherited ataxia patterns, choose genomic tests that detect repeat expansions, and coordinate syndrome-specific cardiac, endocrine, neurological and family care.
- Friedreich ataxia is usually autosomal recessive and caused by biallelic GAA repeat expansions in FXN, reducing frataxin and impairing mitochondrial iron–sulfur biology.
- Typical disease begins in childhood or adolescence with progressive gait and limb ataxia, dysarthria, impaired vibration and joint position, absent lower-limb reflexes and extensor plantar responses.
- Look beyond neurology: hypertrophic or fibrotic cardiomyopathy, arrhythmia, scoliosis, pes cavus, diabetes, hearing impairment and optic neuropathy materially affect surveillance and prognosis.
Key red flags
Syncope, exertional chest pain, palpitations or breathlessness in suspected Friedreich ataxia requires urgent cardiac assessment for cardiomyopathy or arrhythmia.
Investigation priorities
Confirm the common molecular cause of Friedreich ataxia and identify biallelic expanded alleles.
Management branches
A child or young adult has progressive gait ataxia with areflexia, sensory loss or skeletal features.
- Document onset, milestones, school and function, perform full cerebellar, sensory, reflex and plantar examination and construct a three-generation pedigree.
- Arrange specialist neurology and clinical genetics referral and request FXN repeat-expansion analysis through the NHS genomic pathway.
Key medicines
Vitamin E for confirmed deficiency ataxiaUse a specialist-prescribed high-dose oral alpha-tocopherol regimen titrated to the specific inherited deficiency, body weight and serum response rather than a routine supplement dose.
BaclofenStart with a low oral dose, commonly 5 mg up to three times daily, and titrate gradually to function and tolerance under the rehabilitation or neurology plan.