Friedreich’s Ataxia

Overview

Friedreich’s Ataxia (FA) is a rare genetic condition affecting the nervous system. It progressively impairs coordination, balance, and mobility due to damage to nerve fibres in the spinal cord and peripheral nerves. Over time, FA can also impact heart function, speech, and other body systems.

At Royal Buckinghamshire Hospital, we offer specialist diagnosis, management, and comprehensive rehabilitation services designed to maximise independence and improve quality of life for those living with Friedreich’s Ataxia.

Causes of Friedreich’s Ataxia

FA is an inherited genetic disorder caused by mutations in the FXN gene, which leads to reduced production of a protein called frataxin. Frataxin deficiency causes damage to nerve cells and muscles, particularly affecting movement and balance.

• Both parents must be carriers for a child to inherit FA
• Symptoms typically develop during childhood or adolescence
• Occasionally, symptoms may first appear in adulthood

Symptoms of Friedreich’s Ataxia

Symptoms of FA usually worsen over time and commonly include:

• Difficulty walking or maintaining balance
• Muscle weakness and loss of coordination (ataxia)
• Changes in speech (slurred speech or dysarthria)
• Fatigue and muscle stiffness (spasticity)
• Scoliosis (curvature of the spine)
• Reduced reflexes, particularly in legs
• Foot deformities (e.g., high arches or flat feet)
• Vision or hearing impairment in some cases
• Cardiac problems, including abnormal heart rhythms

Diagnosis

Our specialists at Royal Buckinghamshire Hospital will carry out:

• Comprehensive neurological examination
• Genetic testing (blood test) to confirm FXN gene mutation
• Imaging studies (MRI) to assess structural changes in the nervous system
• Cardiac evaluations (ECG, echocardiogram) to monitor heart function

Early diagnosis helps manage symptoms effectively and supports long-term planning.

Treatment & Rehabilitation

While there is no cure for FA, specialist support and rehabilitation can significantly improve quality of life:

• Physiotherapy, focusing on strength, balance, and coordination
• Occupational therapy, to support daily activities and independence
• Speech and language therapy, for communication and swallowing issues
• Cardiac management, including regular monitoring and treatments for heart complications
• Assistive technology and mobility aids to enhance independence
• Psychological and emotional support, to manage the challenges of living with FA

Our multidisciplinary rehabilitation approach helps individuals manage their symptoms, maintain independence, and achieve their personal goals.

Why Choose Royal Buckinghamshire Hospital?

• Specialist expertise in neurological rehabilitation
• Comprehensive inpatient and outpatient rehabilitation programmes
• Personalised multidisciplinary care plans
• Supportive environment and dedicated patient-centred care
• Modern facilities tailored to neurological conditions

Our Resident Neurologist

Dr Weatherall is very welcoming and highly experienced. He offers his patients sound diagnosis and treatment, along with individual care focused on their future health.

Dr Mark Weatherall

Consultant Neurologist

Field