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Pitt Young Q&A 01 - Why is respiratory knowledge essential to neurology

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Pitt Young Q&A 01 - Why is respiratory knowledge essential to neurology

Pitt Young Q&A 02 - Raised CO2 & neuromuscular disorders

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Pitt Young Q&A 02 - Raised CO2 & neuromuscular disorders

Pitt Young Q&A 03 - Neurology assessment of breathing dysfunction

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Pitt Young Q&A 03 - Neurology assessment of breathing dysfunction

Role of Cardiac MRI in Fabry disease

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Pitt Young Q&A 04 - Ageing and sleep disturbance

Pitt Young Q&A 05 - Timing of monitoring respiratory function in NMDs

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Pitt Young Q&A 05 - Timing of monitoring respiratory function in NMDs

Pitt Young Q&A 06 - Which NMDs have an impact on breathing

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Pitt Young Q&A 06 - Which neuromuscular diseases have an impact on breathing

Pitt Young Q&A 07 - Is diagnosis of LOPD being delayed or missed

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Pitt Young Q&A 07 - Is diagnosis of late-onset Pompe disease being delayed or missed

Pitt Young Q&A 08 - Clinical signs of Pompe disease

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Pitt Young Q&A 08 - Clinical signs of Pompe disease

Role of Echocardiogram in Fabry disease

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Pitt Young Q&A 09 - Diagnostic approach to diaphragmatic weakness

Pitt Young Q&A 10 -Importance of an early diagnosis of Pompe disease

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Pitt Young Q&A 10 - Importance of an early diagnosis of late-onset Pompe disease

Pitt Young Q&A 11 - Red Flags for Pompe disease

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Pitt Young Q&A 11 - Red Flags for late-onset Pompe disease

High risk population screening & multi-disciplinary clinic - Fabry Disease

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Pitt Young Q&A 12 - Signs of limb girdle weakness

TESTING & DIAGNOSIS

Diagnosis of Fabry disease is often delayed and patients usually visit several medical specialists before a correct diagnosis is made.1 Data suggests that the overall diagnostic delay for patients with Fabry disease is around 15 years.1 The initial screening assay can be done by the suspecting specialist.