If you’ve never had balance issues, sudden trouble standing or walking can come as a shock. Clumsiness and frequent falls are common early signs of Friedreich ataxia (sometimes abbreviated FA or FRDA). For some people, Friedreich ataxia may not be noticed until scoliosis (curving of the spine) or heart problems develop.
If you or your child has possible symptoms of Friedreich ataxia, it’s important to get a medical diagnosis. Early diagnosis can help you start Friedreich ataxia treatment to manage symptoms and lower the risk of complications and related conditions.
Not everyone develops the same symptoms, which also can vary in severity. This article covers seven common symptoms of Friedreich ataxia. They usually appear before age 25, most often between ages 10 and 15.
“Ataxia” means problems with movement, balance, and coordination. This key feature of Friedreich ataxia affects everyone with the condition to some degree. The problems are progressive, meaning they get worse over time. Eventually, many people need a wheelchair because of difficulty with balance while walking or standing.
These issues develop because of damage to the nervous system. Early signs may include clumsiness, which can seem mild at first. As the condition progresses and involves the arms and legs, symptoms may include:
Friedreich ataxia often causes speech changes. The most common is dysarthria (slurred speech). People may also speak slowly, with speech that sounds unclear, uneven, or choppy.
These changes usually show up several years after balance and coordination problems begin, as Friedreich ataxia progresses. Like other symptoms, speech problems can worsen over time and may make it harder to communicate.
Speech changes occur due to muscle weakness and poor coordination in the face, tongue, and mouth. Dysarthria doesn’t affect thinking ability — it reflects changes in muscle control.
Dysphagia (trouble swallowing) can develop along with speech changes. This symptom is caused by problems with the muscles in the face, mouth, and throat. A speech-language pathologist can help treat both speech and swallowing issues.
Swallowing problems affect between 27 percent and 64 percent of people with Friedreich ataxia. Symptoms vary but may include:
Swallowing difficulties are caused by weakening muscles in the tongue and mouth. Swallowing problems are often more severe in people who have had Friedreich ataxia longer or have more advanced symptoms.
A frequent cough can be a sign of swallowing problems and may mean further evaluation is needed to check the risk of aspiration.
Most people with Friedreich ataxia experience fatigue at some point. Fatigue is more than typical tiredness — it’s extreme exhaustion that can make it hard to do daily activities and may not improve with rest. It can also affect focus and concentration.
Fatigue may be linked to sleep disorders such as sleep apnea, which are common in people with Friedreich ataxia. In some cases, worsening fatigue can also be a sign of heart problems. Let your doctor know if you or your child feels extremely tired most of the time.
From 13 percent to 30 percent of people with Friedreich ataxia develop vision or eye problems of some kind. These issues may not be noticeable at first but can become more apparent with time as the condition progresses. Vision problems and eye movement changes may include:
Vision changes can have a major impact on quality of life. Regular eye exams every two to three years can help monitor eye health and vision.
Hearing impairment or loss can develop as Friedreich ataxia progresses — it usually isn’t present at first. Between 8 percent and 22 percent of people with Friedreich ataxia have hearing impairment, including difficulty processing sounds. You or your child may have trouble understanding what others are saying, especially if there’s any background noise.
Hearing problems may be linked to auditory neuropathy, or damage to the nerve pathways involved in hearing. Medical experts have found that the auditory nerves in many people with Friedreich ataxia-related hearing problems show unusual activity. This can lead to trouble processing speech, distorted hearing, or trouble detecting where a sound is coming from.
Like vision changes, hearing should be checked regularly over time. Hearing aids may not help if sound processing is the main issue, but your doctor can suggest other ways to support communication.
Up to 53 percent of people with Friedreich ataxia develop bladder problems over time. Early signs may include a strong or sudden need to urinate, waking at night to urinate, or needing to go more frequently than usual.
In some people, these problems may progress to urinary incontinence (loss of bladder control). These issues are often linked to an overactive bladder, in which bladder muscles contract without control due to muscle and nerve changes.
Most people with Friedreich ataxia first notice symptoms in childhood or adolescence, but in rare cases, symptoms can start later. In young children, early signs like balance and coordination problems can be hard to distinguish from typical development.
If you notice any possible signs of Friedreich ataxia in yourself or your child, let your healthcare provider know. They may recommend genetic testing to diagnose Friedreich ataxia or rule it out as the cause of your symptoms. Early diagnosis can help you start treatment sooner to manage symptoms and reduce complications.
On MyAtaxiaTeam, people share their experiences with ataxia, get advice, and find support from others who understand.
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