From the Guidelines
Friedreich's ataxia is a rare genetic neurodegenerative disorder that requires prompt management of cardiac involvement and other systemic features to improve morbidity, mortality, and quality of life. The disease is caused by mutations in the FXN gene, leading to reduced production of frataxin protein essential for proper mitochondrial function 1. Symptoms include difficulty walking, loss of coordination, speech problems, scoliosis, heart abnormalities, and diabetes.
Key Features of Friedreich's Ataxia
- Inherited in an autosomal recessive manner
- Prevalence of approximately 1 in 50,000, with a carrier rate of 1 in 60 to 1 in 100
- Cardiac disease is the most life-threatening manifestation
- Additional systemic features include progressive cerebellar dysfunction, ataxia, scoliosis, diabetes mellitus, impaired speech, and loss of vision and hearing
Management and Treatment
- Physical therapy to maintain mobility and function
- Occupational therapy to assist with daily activities
- Medications to address specific symptoms like heart problems (ACE inhibitors, beta-blockers) or diabetes (insulin)
- Speech therapy to help with communication difficulties
- Regular cardiac monitoring is essential as heart complications are common
- The use of omaveloxolone (Skyclarys) has been approved to reduce oxidative stress and improve mitochondrial function, although its implementation should be guided by the most recent clinical guidelines and patient-specific factors 1.
Genetic Counseling
- Genetic counseling is recommended for affected families due to the autosomal recessive inheritance pattern, meaning both parents must carry the mutated gene for a child to develop the condition 1.
From the Research
Overview of Friedreich's Ataxia
- Friedreich's ataxia (FRDA) is a progressive neurodegenerative disease that mainly affects the posterior columns of the spinal cord, resulting in sensory ataxia 2.
- It is the most common autosomal recessive, early-onset ataxia, and the most common inherited ataxia 2, 3.
- FRDA patients often present with dysarthria, resulting from central and peripheral causes, and additional primary language disorders 4.
Clinical Features
- Initial symptoms of FRDA include poor coordination and gait disturbance 2.
- Other clinical features of FRDA include gait and postural ataxia, cerebellar dysarthria, oculomotor dysfunction, musculoskeletal deformities, hearing impairment, hypertrophic cardiomyopathy, and diabetes mellitus 2, 5.
- Vision loss, hearing loss, urinary dysfunction, and depression also occur in FRDA 5.
Management and Treatment
- There is no cure for FRDA, but physiotherapy, management of spasticity and neuropathic pain, symptomatic treatment of heart failure and diabetes, and nursing care can improve the patient's quality of life 2.
- Speech and language disorders in FRDA are prominent and significantly impact patients' quality of life, but there are no successful treatments for these disorders 4.
- Tailored speech training or non-invasive neuromodulation may be reliable therapeutic options for speech disorders in FRDA, but further research is needed to validate these approaches 4.
- Various agents are being tested in Phase III trials, which may provide new treatments for FRDA in the future 5.
Research and Evidence
- There is insufficient and low or very low quality evidence to determine the effectiveness of any treatment for speech disorder in hereditary ataxia syndromes, including FRDA 6.
- Further research is needed to establish the therapeutic potential of agents that address the aberrant silencing of the frataxin gene 3.