Back Print

Friedreich's Ataxia

Also known as: Recessive Spino-cerebellar Degeneration

Background

Friedreich's ataxia (also called FA or FRDA) is a rare genetic condition that causes damage to the nervous system, the spinal cord, peripheral nerves and cerebellum (part of the brain that coordinates balance and movement). This results in progressive disability including weakness, imbalance, incoordination and difficulties with speech, swallowing, vision, hearing and sensation (such as sense of position of the body). Some of the people affected develop cardiac (heart) problems and diabetes.

Credits

Last updated January 2015 by Dr P Giunti, Principal Clinical Research Associate, Ataxia Centre, National Hospital for Neurology and Neurosurgery, UCLH/UCL, Institute of Neurology, London, UK.

What are the symptoms?

Onset is usually between the ages of 4 and 16 years (but occasionally between 18 months and 50 years). The first symptom is usually gait ataxia or difficulty in walking.

The ataxia gradually worsens and spreads but the arms may remain relatively unaffected for a long period. The legs are most commonly affected, so that individuals often have to use a wheelchair in the advanced stages of the condition. There is often loss of position sense in the hands and feet. Individuals who develop FA at a young age may also develop skeletal problems such as curvature of the spine (called scoliosis) or high-arched feet (called pes cavus).

Dysarthria (slowness and slurring of speech) and dysphagia (problems with swallowing) can develop and become progressively worse. Individuals with FA often have abnormal eye movements (called nystagmus) and some may develop hearing and visual loss.

Various forms of heart disease can accompany FA, particularly thickening of the heart muscle (hypertrophic cardiomyopathy) which can cause problems with the pumping power of the heart and irregularities of heart rhythm (arrhythmias). Diabetes may also develop (see entry Diabetes Mellitus).

What are the causes?

The genetic change (mutation) in the majority of individuals (97 per cent plus) is an abnormally long repetition of a DNA fragment (called a GAA repeat) in the Friedreich's ataxia gene on chromosome 9. As this is a recessive condition, you have to have a double dose of mutated genes, in both chromosomes 9, to develop the condition.

How is it diagnosed?

This requires clinical assessment, including a medical history and thorough physical examination. Genetic testing (by blood test) provides a conclusive diagnosis.

How is it treated?

Many of the symptoms of FA can be treated to help individuals maintain a good quality of life. Doctors can prescribe treatments for diabetes and heart problems, if present. Problems such as foot deformities and scoliosis can be corrected with braces or surgery. Physical therapy may prolong use of the arms and legs. There is currently no cure for FA or treatment that slows the degenerative process.

Advances in understanding the genetics of FA are leading to breakthroughs in treatment. Clinical trials of several proposed treatments have already occurred and further trials are currently underway.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
FA is inherited in an autosomal recessive manner.

Prenatal diagnosis
Prenatal diagnosis is also possible via chorionic villus sampling for families where the mutation causing the condition is known. It is also possible to test unaffected individuals in affected families to see if they carry the mutation that causes the condition. Affected families should be referred to a genetics centre for information and advice.

Is there support?

Ataxia UK

Helpline: 0845 644 0606
Email: helpline@ataxia.org.uk
www.ataxia.org.uk

The Organisation is a Registered Charity in England and Wales No. 1102391, established in 1964. It supports people affected by Friedreich's, cerebellar and other ataxias, their carers, families and friends, to live with the condition. The Organisation provides information, a helpline, a network of local branches and self-help groups, contact with other affect families and welfare grants. It also supports medical and scientific research into causes and potential treatments.

Group details last confirmed October 2015.

Talk to other families about your child's condition

Our online community

Visit our online advice and support or read all about diagnosis.


You can also call us if you need information or advice on any aspect of caring for a disabled child. Monday to Friday, 9.30am to 5pm.


0808 808 3555 or helpline@contact.org.uk