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Friedreich Ataxia – Causes, Symptoms and Treatment
Friedreich ataxia is a rare, inherited neurological disorder causing progressive loss of coordination, balance, and muscle control.
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Friedreich ataxia is a rare, inherited neurological disorder causing progressive loss of coordination, balance, and muscle control.
What is Friedreich Ataxia?
Friedreich ataxia is the most common hereditary ataxia worldwide. It is a progressive neurodegenerative disease that primarily affects the cerebellum, spinal cord, and peripheral nerves. The condition was first described in 1863 by German physician Nikolaus Friedreich. Approximately 1 in 50,000 people in Europe is affected, and symptoms typically begin in childhood or adolescence.
Causes and Genetic Background
Friedreich ataxia is caused by mutations in the FXN gene on chromosome 9, which encodes the protein frataxin. In the vast majority of cases, the mutation consists of an abnormal expansion of a GAA trinucleotide repeat sequence within this gene. This expansion silences the gene, resulting in critically reduced frataxin production.
Frataxin is essential for mitochondrial iron metabolism. Without sufficient frataxin, iron accumulates inside the mitochondria, triggering oxidative stress and ultimately causing cell death in nerve cells and cardiomyocytes (heart muscle cells).
The disease follows an autosomal recessive inheritance pattern, meaning a child must inherit a defective copy of the FXN gene from both parents in order to develop the condition.
Symptoms
The first symptoms typically appear between the ages of 5 and 15, though late-onset cases do occur. Disease progression is continuous, though the rate varies between individuals.
Neurological Symptoms
- Ataxia: Unsteady, staggering gait and poor coordination of the arms and hands
- Dysarthria: Slurred or unclear speech
- Dysphagia: Difficulty swallowing in later stages
- Loss of deep tendon reflexes, particularly in the legs
- Numbness and tingling in the limbs due to sensory neuropathy
- Loss of proprioception (the ability to sense body position)
- Visual and hearing impairment may occur
Cardiac Symptoms
- Hypertrophic cardiomyopathy: Thickening of the heart muscle, present in the majority of patients and the leading cause of premature death
- Cardiac arrhythmias
- Heart failure in advanced stages
Other Symptoms
- Scoliosis: Lateral curvature of the spine
- Pes cavus: High-arched foot deformity
- Diabetes mellitus occurs in approximately 10–20% of patients
Diagnosis
Diagnosis is based on a combination of clinical evaluation, neurological testing, and molecular genetic analysis.
- Genetic testing: Detection of the GAA repeat expansion in the FXN gene – the gold standard of diagnosis
- Neurological examination: Assessment of reflexes, coordination, and sensory function
- Electromyography (EMG) and nerve conduction studies (NCS): Evaluation of peripheral nerve function
- Magnetic resonance imaging (MRI): Imaging of the brain and spinal cord to detect degenerative changes
- Echocardiography: Cardiac ultrasound to assess for hypertrophic cardiomyopathy
- Blood glucose and HbA1c testing: To screen for or confirm diabetes mellitus
Treatment
There is currently no cure for Friedreich ataxia. However, since 2023, the first approved disease-modifying treatment – omaveloxolone (brand name: Skyclarys) – has become available in the United States and subsequently in Europe. This drug activates the Nrf2 pathway to reduce mitochondrial oxidative stress and has been shown to slow neurological decline.
Symptomatic and Supportive Therapies
- Physical therapy: To maintain mobility, muscle strength, and coordination
- Occupational therapy: To support daily living activities and fine motor skills
- Speech and language therapy: To address speech and swallowing difficulties
- Cardiology management: Drug treatment of arrhythmias and heart failure
- Orthopaedic care: Braces, wheelchair provision, and surgical correction of scoliosis when necessary
- Diabetes management: Blood glucose monitoring and insulin therapy as needed
Research and Future Perspectives
Active research is underway on gene therapy approaches aimed at restoring FXN gene expression, as well as epigenetic strategies to increase frataxin production. Multiple clinical trials are ongoing worldwide, and the therapeutic outlook continues to improve.
Prognosis
Most patients require a wheelchair within 10–15 years of symptom onset. Life expectancy is primarily limited by cardiac complications. Many patients live into middle adulthood, and some into later life. A multidisciplinary care team and early intervention significantly improve quality of life and functional independence.
References
- Pandolfo M. - Friedreich ataxia: The clinical picture. Journal of Neurology, 2009; 256(Suppl 1): 3–8. https://doi.org/10.1007/s00415-009-1002-3
- Delatycki MB, Corben LA. - Clinical Features of Friedreich Ataxia. Journal of Child Neurology, 2012; 27(9): 1133–1137. https://doi.org/10.1177/0883073812448230
- European Medicines Agency (EMA) - Skyclarys (Omaveloxolone): Summary of Product Characteristics, 2024. https://www.ema.europa.eu
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