From the Guidelines
Friedreich ataxia is characterized by progressive neurological symptoms, including ataxia, dysarthria, muscle weakness, and loss of sensory function, with cardiac complications being the most life-threatening manifestation, as noted in a 2017 scientific statement from the American Heart Association 1. The disease typically presents with a range of symptoms, including:
- Ataxia, characterized by uncoordinated movements and gait instability
- Dysarthria (slurred speech)
- Muscle weakness
- Loss of position and vibration sense
- Absent deep tendon reflexes in the legs
- Skeletal abnormalities, such as scoliosis and pes cavus (high-arched feet)
- Cardiac complications, particularly hypertrophic cardiomyopathy, which can lead to heart failure and arrhythmias
- Diabetes mellitus
- Hearing loss
- Visual impairment These symptoms result from the progressive degeneration of nerve tissue in the spinal cord and peripheral nerves due to reduced levels of frataxin protein, which is essential for mitochondrial function, as described in the study 1. The severity of Friedreich ataxia symptoms is variable and often correlates with the size of the GAA trinucleotide repeat expansion in the FXN gene, with larger expansions typically leading to more severe symptoms, as noted in the study 1. While there is no cure for Friedreich ataxia, management focuses on supportive care, physical therapy, and treating cardiac and diabetic complications to maintain quality of life, with the goal of reducing morbidity and mortality, as emphasized in the study 1.
From the Research
Signs and Symptoms of Friedreich Ataxia
- Progressive ataxia
- Ascending weakness
- Ascending loss of vibration and joint position senses
- Pes cavus
- Scoliosis
- Cardiomyopathy
- Arrhythmias 2
Disease Characteristics
- Friedreich ataxia is a progressive neurodegenerative disorder
- Typically has an onset before 20 years of age
- It is the most common autosomal recessive ataxia 2, 3, 4
Treatment and Management
- There are no disease-modifying medications to slow or halt the progression of the disease
- Research is ongoing to investigate therapies to increase endogenous frataxin production and decrease the downstream consequences of disrupted iron homeostasis
- Clinical trials of promising medications, such as idebenone, are underway 2, 5, 3, 6
- Idebenone has been shown to have a positive effect on cardiac hypertrophy and neurological symptoms in some patients with Friedreich ataxia 5, 6