From the Guidelines
Friedreich ataxia is a rare genetic neurodegenerative disorder that requires comprehensive management to mitigate its progressive effects on the nervous system, heart, and other systems, with a focus on managing symptoms and complications to improve quality of life and reduce morbidity and mortality. The disorder is characterized by progressive damage to the nervous system, resulting in movement problems, heart disease, and diabetes, and is caused by mutations in the FXN gene, which leads to reduced production of frataxin protein essential for proper mitochondrial function 1. Symptoms typically begin between ages 5-15 and include progressive difficulty walking, poor coordination, slurred speech, muscle weakness, spinal curvature, heart problems, and diabetes.
Key Aspects of Friedreich Ataxia
- The disease is inherited in an autosomal recessive manner, with a prevalence of approximately 1 in 50,000 and a carrier rate of 1 in 60 to 1 in 100 1.
- Cardiac disease is the most life-threatening manifestation of Friedreich ataxia, emphasizing the need for careful cardiac management, potentially including medications like ACE inhibitors or beta-blockers 1.
- The spectrum of phenotypic features of Friedreich ataxia fits best with a mitochondrial disorder, given frataxin's role in the synthesis of Fe-S cluster proteins involved in regulating mitochondrial iron content 1.
Management and Treatment
- Physical therapy is crucial for maintaining mobility and function, while occupational therapy assists with daily activities.
- Speech therapy can address speech and swallowing difficulties.
- Some patients may benefit from antioxidants like idebenone or coenzyme Q10, though evidence for their effectiveness is limited.
- Regular monitoring by a multidisciplinary team including neurologists, cardiologists, and endocrinologists is essential for comprehensive care 1.
Prognosis
- The disease is progressive, with most patients requiring wheelchairs within 10-20 years of diagnosis.
- Life expectancy is often reduced due to cardiac complications, highlighting the importance of early and aggressive management of cardiac involvement 1.
From the Research
Overview of Friedreich Ataxia
- Friedreich ataxia (FRDA) is a multisystem disorder affecting 1 in 50,000-100,000 people in the United States 2.
- It is a progressive neurodegenerative disease that mainly affects the posterior (dorsal) columns of the spinal cord, resulting in sensory ataxia 3.
- FRDA patients also develop cardiomyopathy, scoliosis, diabetes, and other manifestations 2.
Clinical Manifestations
- The phenotype of FRDA is unique, giving rise to specific loss of neuronal pathways, a unique form of cardiomyopathy with early hypertrophy and later fibrosis, and diabetes incorporating components of both type I and type II disease 2.
- Speech and language disorders are prominent signs in FRDA, which significantly impact patients' quality of life 4.
- Vision loss, hearing loss, urinary dysfunction, and depression also occur in FRDA 2.
- Gait and postural ataxia, cerebellar dysarthria, oculomotor dysfunction, musculoskeletal deformities, hearing impairment, hypertrophic cardiomyopathy, and diabetes mellitus are also present 3.
Management and Treatment
- Although there is no cure that can alter the natural course of the disease, physiotherapy, management of spasticity and neuropathic pain, symptomatic treatment of heart failure and diabetes, and nursing care can grant patients a better quality of life 3.
- Occupational therapy (OT) is aimed to facilitate task performance by improving relevant performing skills or developing and teaching compensatory strategies to overcome lost performances 5.
- Sequential OT treatments may contribute to limit the progression of disability and maintain participation in everyday activities 5.
- Many agents are reaching Phase III trials; if successful, these will provide a variety of new treatments for FRDA that will require many specialists who are not familiar with FRDA to provide clinical therapy 2.