Friedreich ataxia

Overview

What is Friedreich ataxia?

Friedreich ataxia, or FA, is a genetic condition that affects the nervous system and causes problems with voluntary movement and coordination (ataxia). People with Friedreich ataxia gradually lose their strength and feeling in their arms and legs; develop stiffness in their muscles (spasticity); and have slow, slurred speech (dysarthria). Some people who have Friedreich ataxia can develop a heart condition called hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy is a condition where part of the heart wall becomes thickened. This can cause the heart to not work the way it should and can be dangerous if not treated and managed correctly. Approximately two out of every three people who have FA will develop hypertrophic cardiomyopathy. Symptoms of FA typically begin between the ages of 10-15. Most individuals develop symptoms before age 25. There is also a late onset form of Friedreich ataxia where symptoms develop after the age of 25.

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Are there other names for Friedreich ataxia?

How common is Friedreich ataxia?

What is Friedreich ataxia called most often by doctors?

What is the usual abbreviation for Friedreich ataxia?

Are their different types of Friedreich ataxia?

Are there other names for Friedreich ataxia?

Friedreich ataxia can also be called Friedreich spinocerebellar ataxia. Many people refer to it as Friedreich's ataxia. Common abbreviations are FA and FRDA.

How common is Friedreich ataxia?

Friedreich ataxia is one of the most common autosomal recessive forms of ataxia occurring in approximately 1 in 40,000 people. It is most commonly found in people of European, Middle Eastern, Southeast Asian (Indian) or North African ancestry and is rarely found in other populations. Between 1 in 60 and 1 in 100 people are thought to be carriers for Friedreich ataxia.

What is Friedreich ataxia called most often by doctors?

Doctors will most often call this condition Friedreich ataxia, Friedreich's ataxia, or FA. Some doctors will just refer to it as "Friedreich's."

What is the usual abbreviation for Friedreich ataxia?

The usual abbreviations for Friedreich ataxia include FA and FRDA.

Are their different types of Friedreich ataxia?

There are different types of Friedreich ataxia. Approximately 75% of people who have Friedreich ataxia have the typical, or childhood onset form. These individuals typically show symptoms between the ages of 10-15. The youngest reported patient to show symptoms is 5 years of age.

Approximately 25% of people who have Friedreich ataxia have an "atypical" or later onset form. There are two different types of the later onset form.

  1. Late-onset Friedreich ataxia (LOFA) - the age of onset of symptoms is between 26 and 39 years. The disease progression tends to be slower than in the childhood onset form.
  2. Very late-onset Friedreich ataxia (VLOFA) - the age of onset of symptoms is over 40 years of age. The oldest reported onset of symptoms is 80 years. This is the mildest version of Friedreich ataxia.

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