Friedreich s Ataxia
Overview
Friedreich's ataxia, an uncommon inherited disorder, can profoundly affect the nervous system.
It is usually caused by a gene defect inherited from both parents. Symptoms of the disorder often begin in late childhood and can include difficulty walking, fatigue, changes in sensation, and slowed speech.
Unfortunately, these symptoms tend to worsen over time, which can make it challenging for individuals with Friedreich's ataxia to perform everyday tasks.
While a cure is not presently available, there are treatments to manage symptoms and improve the quality of life for affected individuals. With appropriate care and support, individuals with Friedreich's ataxia can continue to lead fulfilling lives.
Symptoms
• Progressive ataxia of the limbs during walking is the primary symptom of Friedreich's Ataxia.
• Ataxia involves inadequate muscle coordination, leading to an unsteady gait and poor control of fine limb movements.
• Involvement of muscles in the mouth and throat can result in slurred speech and impaired swallowing.
• Intellect remains unaffected by Friedreich's Ataxia.
• Sideways curvature of the spine (scoliosis) and foot abnormalities may develop as secondary symptoms.
• Cardiomyopathy, a form of heart disease, may develop in over half of individuals with Friedreich's Ataxia.
Causes & Risks
• Friedreich's Ataxia results from pathogenic variants (mutations) in the FXN gene.
• The FXN gene produces frataxin, a protein vital for mitochondrial function.
• Individuals with Friedreich's Ataxia have both copies of the FXN gene affected, leading to insufficient frataxin production.
• Tissues reliant on mitochondrial energy, like nerve and heart cells, degenerate due to inadequate frataxin levels.
• Mitochondria, the energy-producing organelles in cells, are affected by insufficient frataxin, contributing to the disease's progression.
• The degeneration of nerve and heart cells in Friedreich's Ataxia can lead to symptoms such as ataxia and cardiomyopathy.
Test & Diagnosis
• FRDA diagnosis relies on clinical exams and genetic testing, with symptoms like poor balance and motor skill difficulties being initial indicators.
• Confirmatory diagnosis involves molecular genetic testing, which detects pathogenic variants in the FXN gene.
• Over 90% of FRDA cases exhibit abnormally expanded GAA repeat variants in maternal and paternal FXN gene copies.
• Molecular genetic testing is essential for accurate diagnosis and treatment planning.
• Clinical exams help identify characteristic symptoms, aiding in the diagnosis of FRDA.
• Understanding genetic variants in the FXN gene is crucial for disease management and treatment strategies.
Treatment
• Symptomatic and supportive treatment is critical for managing FRDA.
• A multidisciplinary treatment approach is essential due to the condition's impact on multiple organ systems.
• Continuous medical supervision is advised to prevent potential complications affecting the heart, spine, feet, muscles, vision, and hearing.
• Omavoloxolone (Skyclaris) gained FDA approval in 2023 as a therapy for FRDA patients aged 16 and above.
• Clinical trials demonstrated omavoloxolone's effectiveness in slowing the progression of the disease.
• Multifaceted care, including regular monitoring and targeted therapies, is crucial in managing FRDA effectively.
Living With
Friedreich's ataxia (FRDA) is a genetic disorder that can significantly affect an individual's life.
The condition is progressive, meaning that symptoms typically worsen over time. Due to the impact on the nervous system, individuals with FRDA may encounter challenges related to mobility, such as impaired balance and walking, coordination difficulties, muscle weakness, and diminished sensation in the arms and legs.
Heart-related complications, such as hypertrophic cardiomyopathy and heart rhythm abnormalities, are also common. Other challenges may include speech and swallowing difficulties, spinal deformities, and decreased coordination and fine motor skills.
Coping with a progressive condition like FRDA can also take a significant emotional toll, making ongoing care and support from healthcare providers, family, and support groups essential.
Complications
• Mobility issues
• Heart-related problems
• Spinal deformities
• Speech and swallowing difficulties
• Loss of sensation and reflexes
• Muscle weakness and atrophy
The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.
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