Nicholas Friedreich first described the clinical and pathological characteristics of Friedreich’s ataxia in 1863.
Friedreich’s Ataxia (FA) is a debilitating, life-shortening, degenerative neuro-muscular disorder. It causes progressive loss of coordination and muscle strength in the arms and legs leading to full time use of a wheelchair. Other difficulties include constant tremor, slurred speech, difficulty swallowing, scoliosis, heart abnormalities and diabetes.
Onset of symptoms can vary from childhood to adulthood. Childhood onset of FA usually occurs between 5 and 15 years and tends to have a more rapid progression. Late onset FA can occur at any time in adulthood even up to the 6th decade.
What are the signs and symptoms of the condition?
• loss of coordination (ataxia) in the arms and legs.
• fatigue – energy deprivation and muscle loss.
• vision impairment, hearing loss, and slurred speech.
• aggressive scoliosis (curvature of the spine).
• diabetes mellitus (insulin-dependence, in most cases).
• a serious heart condition (enlarged heart – hypertrophic cardiomyopathy).
It is important to note that not all these symptoms are present in people who have FA. The rate of deterioration and incapacitation affects each person differently and at varying times in their lives. The progressive loss of coordination and muscle strength leads to motor incapacitation and eventually the full-time use of a wheelchair. Most young people diagnosed with FA require mobility aids such as a cane, walker, or wheelchair by their teens or early twenties.
How many people have ataxia?
Friedreich’s Ataxia is not well known by the medical profession so under-diagnosis and mis-diagnosis may well be a problem. There are over 50 types of ataxia. The most common ataxia worldwide is Friedreich’s ataxia (FA). The estimated carrier prevalence of FA is 1:110. It has a frequency of 1 in 40,000. This would imply that there are 11,250 patients in Europe in varying stages of the illness.
At present there is no treatment for Friedreich’s Ataxia.