Friedreich ataxia

Pes cavus

A high-arched foot (pes cavus) is often present by the time of diagnosis.

Areflexia of lower limbs

In friedreich ataxia the sensory nerves that carry signals from the legs are progressively damaged, so the normal knee and ankle reflexes are often reduced or absent. This sensory loss is one of the core neurological features of the condition.

Diabetes mellitus

Friedreich ataxia raises the risk of diabetes, because the same iron-handling problem that affects nerves and the heart can also impair the pancreas cells that make insulin. Blood sugar is worth monitoring over time.

Limb ataxia

Worsening unsteadiness of the limbs and walking (ataxia), along with loss of sensation, is the core neurological feature.

Depression

Depression occurs more often in Friedreich ataxia than in the general population. It is a recognized part of the condition's burden, not a personal failing, and treatment and support can make a real difference to quality of life.

Dysarthria

As Friedreich ataxia progresses, speech often becomes slurred and harder to understand (dysarthria) because the disease affects the muscles and nerve pathways used to form words.

Impaired vibratory sensation

The sensory nerves affected by friedreich ataxia include those that carry the sense of vibration, so the ability to feel a vibrating object against the skin is often reduced. It is part of the broader sensory loss seen in the condition.

Impaired proprioception

Friedreich ataxia damages the nerve pathways that tell the brain where the body is in space, so the sense of joint and limb position can be lost. This sensory loss makes balance and coordinated movement harder, especially without looking.

Gait ataxia

The first and defining sign of Friedreich ataxia is usually unsteady walking. Damage to the spinal cord and the nerves that sense position makes balance and coordination progressively worse, so gait becomes wide-based and clumsy and often advances toward needing a wheelchair over years.

Inability to walk

Friedreich ataxia usually begins with unsteadiness when standing and walking and slowly progresses over years, often to the point of needing a wheelchair, commonly in the late teens or early twenties.

Anxiety

Anxiety is common in people living with Friedreich ataxia. It can be both a direct part of the condition and an understandable response to a progressive illness, and it is worth raising because it is treatable.

Falls

Unsteadiness in standing and walking is the earliest sign of friedreich ataxia. As balance becomes less reliable, losing footing and falling can happen more easily.

Sensory axonal neuropathy

Friedreich ataxia involves progressive damage to the sensory nerves, a process that produces the loss of feeling and position sense that accompanies the unsteady movement of the condition.

Cardiomyopathy

Disease of the heart muscle (cardiomyopathy) is a common and important feature that needs monitoring.

Abnormal EKG

Friedreich ataxia affects the heart as well as the nervous system, and the heart problems can include irregular heart rhythms (arrhythmias). These cardiac changes are an important part of the condition and are worth monitoring even when they cause no obvious symptoms.

Hearing impairment

Some people with Friedreich ataxia develop hearing difficulty, especially trouble understanding speech in noisy settings. This comes from the way the disease affects the auditory nerve pathway rather than the ear itself, so standard hearing aids may help less than expected.

Spasticity

Muscle stiffness (spasticity) can develop as the condition progresses.

Muscle weakness

Friedreich ataxia affects the nervous system in ways that bring increasing difficulty with coordination and loss of feeling, which together make movement and everyday tasks harder over time.

Scoliosis

A sideways curve of the spine (scoliosis) often develops, especially in younger people.

Friedreich ataxia

Diagnosed using: FXN GAA repeat expansion genetic test.

Omaveloxolone

Omaveloxolone is a medicine approved for Friedreich ataxia and is the first disease-targeted treatment available for it.

Used to help with: Friedreich ataxia.