Friedreich's Ataxia (FA)

Outline

Background

• Incidence: 1/40,000, most commonly Caucasians

• Accounts for 50% of all ataxia, 75% under 25yrs

• Trinucleotide repeats affect frataxin (FXN) gene on chromosome 9

Prognosis

• Age of diagnosis usually < 20 years

• Loss of ability to walk 15yrs post diagnosis

• Life expectancy 40-50yrs

• Complications: Heart Failure & Diabetes

• Cause of death: Hypertrophic Cardiomyopathy

Assessment

History

• 5-25yrs Caucasian

• Poor mobility

• Visual/ hearing issues

Examination

• Ataxia- bilateral

• Reduced lower limb power, sensation & reflexes

• Absent ankle reflexes with upward plantars

Investigations

• Genetic testing: diagnostic- GAA repeats

• MRI of brain & spinal chord will show atrophy

• ECG: atrial fibrillation

Diagnosis

Diagnostic criteria: genetic testing (FXN gene)

Management

MDT

• Consultant Neurologist

• Cardiologist- ECHO monitor heart function

• Audiometry- monitor vision

• Optician- monitor sight

• PT- mobility aids, reduce Sarcopenia

• Orthotics- support joints

• OT- home adjustments, SW- carers, Psychologist- mental health, Dietician- reduce sarcopenia

Lifestyle

• Mobility, diet, 

Medical

• Analgesia- neuropathic pain (amitriptyline, gabapentinoids, venlafaxine)

• Complications - e.g. diabetes

Surgical 

• Orthopedics procedures (rarely)

References and Resources

1. Williams CT, De Jesus O. Friedreich Ataxia. [Updated 2023 Aug 23]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK563199/ 

Written 2025.