Friedreich’s ataxia is a genetic condition that affects the nervous system. It’s caused by a change in a gene responsible for regulating energy production within cells. This change means that the cells of the body can’t produce enough energy to carry out their normal functions.
Cells in organs that use the most energy — that is, the cells of the nervous system and heart — are most affected by Friedreich’s ataxia. This is what leads to the many different symptoms caused by the condition.
Friedreich’s ataxia is a neuromuscular condition, meaning the nerves and muscles are most affected. However, symptoms don’t necessarily develop right away. Friedreich’s ataxia is a progressive condition, meaning that the symptoms get worse over time.
In many cases, the signs and symptoms of Friedreich’s ataxia are mild and nonspecific at the start, which may make it difficult to recognize early on.
Poor coordination of arms or legs
Ataxia is a term used to describe poor muscle coordination. According to a
Nearly one-quarter of people in the study also had problems coordinating hand movements.
Poor limb coordination may be experienced as problems with balance or dexterity. In kids, initial concerns may be related to their “clumsiness” or development delays in motor skills.
Skeletal features
Certain types of skeletal features are common in people with Friedreich’s ataxia and may be one of the early signs of the condition. These features may be present before symptoms of ataxia even begin.
Scoliosis is one of the most common skeletal features in people with Friedreich’s ataxia. According to a
Scoliosis is a condition in which the spine curves sideways in the back. In some cases, scoliosis can become so severe that it requires treatment with a brace or surgery.
Foot abnormalities are also common and can be seen in up to three-quarters of people with Friedreich’s ataxia. The most common of these is a condition known as pes cavus, which refers to a very high arch that doesn’t flatten while walking or standing.
Heart disease
Hypertrophic cardiomyopathy is a heart condition that causes the muscles of the heart to become enlarged. It’s a very serious condition and the
Although relatively rare in early Friedreich’s ataxia, cardiomyopathy early in the course of disease may be predictive of severe disease and poor outcomes.
Symptoms of cardiomyopathy include:
- shortness of breath, especially with exercise
- fatigue
- swelling in the lower limbs
- dizziness or lightheadedness
- chest pain
- abnormal heartbeats, such as palpitations or heart murmurs
Signs and symptoms of Friedreich’s ataxia usually begin in childhood or adolescence, typically by 15 years of age.
About 15% of people with Friedreich’s ataxia will have a late-onset or very late-onset form that begins after the ages of 25 or 40 years, respectively.
In addition to the signs and symptoms described above, people with Friedreich’s ataxia may experience a wide variety of other symptoms. Possible symptoms of Friedreich’s ataxia include:
- difficulty speaking (slowed or slurred speech)
- difficulty swallowing
- loss of normal reflexes in the legs
- loss of sensation in the arms of legs, which may spread to other parts of the body
- hearing or vision loss or impairment
- bladder problems
- fatigue or daytime sleepiness
- general weakness
- diabetes
Not everyone with Friedreich’s ataxia will experience all of the symptoms above. The most common symptoms are loss of limb coordination, heart problems, difficulty speaking, and hearing problems — most people with Friedreich’s ataxia will experience these at some point over the course of their disease.
The progression of Friedreich’s ataxia varies from person to person based on a variety of known and unknown factors.
For instance, people with late- or very late-onset disease tend to have slower progression. Genetics may play a role as well, since certain genetic changes have been found to be
Although there is no cure for Friedreich’s ataxia, management of symptoms and earlier diagnosis of disease have helped improved life expectancy. According to a
Prognosis is worse for people with heart complications, particularly early in the course of disease.
Some people with less severe symptoms may live well into their 60s or older.
If a healthcare professional suspects that symptoms may be caused by Friedreich’s ataxia, they will likely refer to a neurological specialist and a genetic counselor. Diagnosis of Friedreich’s ataxia is based primarily on genetic testing for disease-causing genetic changes, but a variety of other tests may be done to determine the cause or extent of symptoms, such as:
- an electromyogram to measure the electrical activity of muscle cells
- nerve conduction studies
- an electrocardiogram to measure electrical activity of the heart
- an echocardiogram to visualize the heart
- blood tests
- brain or spinal cord imaging
In many cases, the signs and symptoms of Friedreich’s ataxia are not immediately recognized. Even with neurological symptoms such as ataxia,
People with a family history of Friedreich’s ataxia may receive a diagnosis more quickly since their healthcare team may already be watching for symptoms.
Once a diagnosis of Friedreich’s ataxia is made, you may be connected to a variety of specialists to help manage symptoms, including a cardiologist, physical or occupational therapists, and speech therapists.
Friedreich’s ataxia is a neurological condition that affects the way the nerves and muscles work, leading to a diverse collection of signs and symptoms. The most common are poor coordination of the limbs, which can lead to walking difficulties as well as trouble speaking, heart problems, and hearing problems.
A variety of specialists are involved in managing the symptoms of Friedreich’s ataxia. While there is no cure for the disease, proactive care can help lower the impact of the disease and prolong independence and survival.