The challenge 

Charcot-Marie-Tooth disease (CMT) is the common inherited peripheral neuropathy. It affects peripheral nerves, which carry signals between the central nervous system and muscles. As the disease progresses, it can cause muscle weakness and sensory loss which significantly affect mobility and independence.

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Fatigue is a common symptom experienced by children and adolescents living with CMT. Around 80% of parents report that their child tires more quickly than their peers during physical activity, yet the impact of fatigue remains poorly understood and difficult to assess. Without a reliable way to measure fatigue, clinicians and researchers have limited ability to understand its impact or evaluate whether future treatments improve this important aspect of quality of life.

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Monica Marzouk and her team are addressing this critical gap by investigating how fatigue presents in young people living with CMT and developing the CMT Fatigue Scale (CMT-FaS), a tool designed to provide a more consistent way to assess fatigue in clinical and research settings.

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The role of philanthropy

Hearts & Minds funding, as nominated by Magellan Investment Partners, has enabled Muscular Dystrophy NSW to award a full-time postgraduate scholarship to Monica Marzouk, providing her with dedicated time to focus on this research and accelerate progress towards a better understanding of fatigue in children and adolescents with CMT.

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This philanthropic support has also helped leverage additional funding through the Nigel Clark Memorial Travel Grant, enabling Monica to present her research at the Hereditary Neuropathy Foundation’s 2026 Summit. This opportunity increased the visibility of the project, strengthened connections with the global CMT research community, and created opportunities for future collaboration.

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What this could unlock

The development of the CMT-FaS has the potential to strengthen how fatigue is understood and assessed in children and adolescents living with CMT. By providing researchers and clinicians with a clearer picture of this often-overlooked symptom, this work could help inform future studies and the evaluation of treatments aimed at improving outcomes for people living with CMT.

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This project is supported by Hearts and Minds Investments, as nominated by Core Fund Manager,  Magellan Investment Partners. For further information and updates, visit Muscular Dystrophy NSW.