🧬FREE MSRA PODCAST –Friedreich’s Ataxia: From Genes to Gait and Beyond
🎧 In this episode, we untangle Friedreich’s Ataxia (FA)—the most common early-onset inherited ataxia.We’ll break down the genetics, the mitochondrial link, clinical features,complications, and management—everything you need for the MSRA and clinical practice. Quick, focused, and high-yield!
🧠Key Learning Points
📌 Definition
• Friedreich’s Ataxia is a progressive,hereditary neurodegenerative disorder—caused by autosomalrecessive mutations in the FXN gene(chromosome 9) resulting in deficient frataxinprotein.
• Hallmarks:Progressive ataxia (loss of coordination), muscle weakness, and reduced/absentreflexes.
📌 Genetics & Pathophysiology
• Trinucleotide GAA repeat expansion in the FXNgene → reduced frataxin → mitochondrial dysfunction, iron accumulation,oxidative stress, and cell damage (especially nerves & heart).
• No “anticipation”(unlike some other repeat disorders).
• Most common inindividuals of European descent.
• Onset: Usuallyages 10–15.
📌 Symptoms & Clinical Features
• Progressive limb/gait ataxia (balance/walkingdifficulties)
• Dysarthria (slurred speech)
• Reduced proprioception & vibration sense
• Muscle weakness (limbs)
• Areflexia (absent ankle/knee jerks)
• Babinski sign (upgoing plantars)
• Cerebellar ataxia, optic atrophy
• Scoliosis, pes cavus (high-arched feet), high-archedpalate (may appear early)
• Cardiomyopathy (90%: hypertrophic, often amajor cause of death)
• Diabetes mellitus (10–20%)
• Other: Bladder dysfunction, cold peripheries(cyanosis), respiratory issues in late disease
📌 Diagnosis
• Genetic testing (GAA repeat in FXN gene = goldstandard)
• Clinical exam: Progressive ataxia, areflexia,cerebellar/cord signs
• Nerve conduction studies: Absent/reducedsensory potentials
• ECG/echo: Cardiac hypertrophy, arrhythmias
• MRI: Spinal cord atrophy
• Bloods: Glucose (diabetes), vitamin E (excludedeficiency)
📌 Differentials
• Other inheritedataxias (spinocerebellar ataxias)
• Vitamin Edeficiency (treatable mimic!)
• Multiplesclerosis, toxins, metabolic, immune, or structural causes
• Early cognitiveimpairment or marked cerebellar atrophy suggest alternatives
📌 Management
• No cure—focus is on symptom & complicationmanagement
• Multidisciplinary care: Neuro, cardio, physio,OT, speech & language, social support
• Physiotherapy: Mobility, manage spasticity
• Speech therapy: Speech & swallow support
• Cardiac management: Standard treatment forcardiomyopathy/arrhythmias
• Diabetes: Standard diabetic management
• Orthopaedics: Surgery for scoliosis/footdeformity if needed
• Genetic counselling is essential forpatients/families
• Research ongoing: Antioxidants, ironchelation, gene therapy (none proven effective yet)
📌 Complications & Prognosis
• Progressive disability: Wheelchair use ~15years post-diagnosis
• Cardiac complications: Main cause of mortality(mean life expectancy 40–50 years, some live longer)
• Diabetes & respiratory complications alsoreduce quality & length of life
📎More MSRA Resourcesfor Friedreich’s Ataxia:
📝 Revision Notes: https://www.passthemsra.com/topic/friedreichs-ataxia-revision-notes/
🧠 Flashcards: https://www.passthemsra.com/topic/friedreichs-ataxia-flashcards/
💬 Accordion Q&A: https://www.passthemsra.com/topic/friedreichs-ataxia-accordion-qa-notes/
🚀 Rapid Quiz: https://www.passthemsra.com/topic/friedreichs-ataxia-rapid-quiz/
🎓 Neurology Course: https://www.passthemsra.com/courses/neurology-for-the-msra/
#MSRA #MSRARevision#MSRATextbook #FriedreichsAtaxia #Ataxia #Neurology #MitochondrialDisease#MSRAFlashcards #MSRAQuiz #MSRAAccordions #ExamPrep #PassTheMSRA #Revision