Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich ataxia, such as cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common. About 20 percent of people with Friedreich ataxia develop carbohydrate intolerance and 10 percent develop diabetes mellitus. Some people lose hearing or eyesight.
The rate of progression varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease individuals become completely incapacitated. Life expectancy may be affected, and many people with Friedreich ataxia die in adulthood from the associated heart disease, the most common cause of death. However, some people with less severe symptoms of Friedreich ataxia live much longer, sometimes into their sixties or seventies.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Reduced visual acuity||5%|
|Abnormality of visual evoked potentials||-|
|Areflexia of lower limbs||-|
|Autosomal recessive inheritance||-|
|Congestive heart failure||-|
|Decreased amplitude of sensory action potentials||-|
|Decreased pyruvate carboxylase activity||-|
|Decreased sensory nerve conduction velocity||-|
|Mitochondrial malic enzyme reduced||-|
|Visual field defect||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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My 32-year-old brother has Friedreich ataxia and is completely dependent and wheelchair bound. I have lived a normal, healthy life but have read recently that late onset of this condition can occur in individuals from 26 years and older. I am currently 33-years-old. What are my chances of developing Friedreich ataxia later on in life? Should I get tested for it? See answer
My daughter has Friedreich ataxia. Both of her parents are black, and her paternal great grandmother is of Irish descent. How did my daughter inherit this condition, and how can I find other families that are in a similar situation? See answer
My sister has Friedreich's ataxia. I am looking for ways to make her life easier. Can you tell me where I can find out about wheelchairs, exercises, and bathroom accomodations? I would also like to connect with people who can help me. See answer