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Friedreich ataxia

An atlas of recessive progressive ataxia from FXN deficiency, cardiac and metabolic complications, genetic diagnosis, multidisciplinary care, and targeted therapy.

Friedreich ataxia · FRDA · Friedreich's ataxia

MONDO:0100339Public QA completeSource-bound · 4

Disease at a glance

Start with the essentials, then explore the patient and research views.

Public revision · 8acd26a2d8d0

Disease class
Friedreich ataxia is an inherited progressive neurologic disorder.
Core mechanism
Pathogenic FXN variants cause frataxin deficiency.
Genes or cause
Most cases involve GAA repeat expansion with autosomal-recessive inheritance.
Typical features
Gait, balance, and limb coordination progressively worsen.
Variability
Speech, swallowing, sensation, and strength can be affected.
Diagnosis
Hypertrophic cardiomyopathy, arrhythmia, diabetes, and scoliosis can occur.
Management
Diagnosis uses clinical findings and FXN genetic testing.
Treatment and research
Genetic counseling and family testing are offered.
Reading evidence
Neurologic, cardiac, endocrine, and musculoskeletal systems are assessed regularly.
Key caution
Physical, occupational, speech therapy, and assistive devices are individualized.

For patients and families

A structured guide for understanding the disease and preparing for clinical conversations.

At a glance

Friedreich ataxia is an inherited progressive neurologic disorder.

Gait, balance, and limb coordination progressively worsen.

How the disease works

Pathogenic FXN variants cause frataxin deficiency.

Most cases involve GAA repeat expansion with autosomal-recessive inheritance.

Why experiences vary

Speech, swallowing, sensation, and strength can be affected.

Diagnosis and management

Hypertrophic cardiomyopathy, arrhythmia, diabetes, and scoliosis can occur.

Treatment status

Diagnosis uses clinical findings and FXN genetic testing.

Genetic counseling and family testing are offered.

Reading clinical trials

Drug benefit, liver tests, lipids, and interactions require review.

Topics for a clinical visit

Genotype, mobility, cardiac, swallowing, metabolic, and treatment eligibility require review.

Medical notice

This material is for disease education and is not a personal diagnosis or treatment instruction.

Evidence and sources

A trial registry status does not establish efficacy or regulatory approval.