🧬FREE MSRA PODCAST –Ataxia Telangiectasia: The Classic ‘A + T + I + C’ Syndrome Explained!
🎧 Struggling to memorise the key features of AT?This episode breaks down the essential facts for exams and practice. Perfectfor MSRA neurology revision—listen, learn, and recall!
🧠Key Learning Points
📌 Definition
• AT = rare,inherited (autosomal recessive) disorder due to ATM gene mutation.
• Classic triad: Ataxia (progressive loss of coordination), Telangiectasia (dilated vessels, eyes/skin), Immunodeficiency, Cancer risk.
📌 Causes & Pathophysiology
• ATM gene defectimpairs DNA repair → genomic instability.
• Rapidly dividingcells (cerebellum, immune cells) most affected.
• Inheritance: bothparents must be carriers (autosomal recessive).
📌 Who’s at risk?
• Children ofcarrier parents (risk ↑ with consanguinity).
• Prevalence UK: 1in 100,000–300,000.
• Carriers: ↑ riskof cancers (notably breast cancer in females), ↓ life expectancy.
📌 Clinical Features
• Onset in earlychildhood (age 1–4):
– Progressiveataxia (worsening coordination, unsteady gait)
– Conjunctivaltelangiectasia (red lines in eyes, cheeks, ears)
– Recurrentrespiratory infections
– Immunodeficiency(low IgA/IgG, lymphopenia)
– High cancer risk(esp. lymphoma/leukaemia)
• Other signs:dysarthria, dysphagia, oculomotor apraxia, delayed development, growth failure,radiation sensitivity.
📌 Diagnosis
• Gold standard:Genetic testing (ATM gene mutation).
• Labs: ↑Alpha-fetoprotein (AFP), ↓ immunoglobulins, lymphocyte subsets.
• MRI: Cerebellaratrophy.
• Immunology:Immunoglobulin levels.
• Memory tip: G-L-I-M (Genetics, Labs, Immunology, MRI).
📌 Management
• Supportive only(no cure):
– Multidisciplinaryteam: neuro, immuno, physio, oncology, etc.
– Physio/OT/speechtherapy
– Immunoglobulinreplacement
– Prophylacticantibiotics
– Cancer screening
– Minimiseradiation exposure (avoid X-rays/CT)
– Family/geneticcounselling
–Palliative/supportive care as disease progresses
📌 Prognosis & Complications
• Progressiveneurodegeneration (wheelchair use common in teens)
• Median survival:20s–30s
• Commoncomplications: respiratory failure, recurrent infections, cancer,swallowing/nutritional issues
• Carriers: ↑ breastcancer risk in females
📎More MSRA Resourcesfor Ataxia Telangiectasia:
📝 Revision Notes: https://www.passthemsra.com/topic/ataxia-telangiectasia-revision-notes/
🧠 Flashcards: https://www.passthemsra.com/topic/ataxia-telangiectasia-flashcards/
💬 Accordion Q&A: https://www.passthemsra.com/topic/ataxia-telangiectasia-accordion-qa-notes/
🚀 Rapid Quiz: https://www.passthemsra.com/topic/ataxia-telangiectasia-rapid-quiz/
🎓 Neurology Course: https://www.passthemsra.com/courses/neurology-for-the-msra/
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