Sponsored symposium: Mitochondrial Depletion Disorders: when to suspect and how to manage (UCB Pharma Ltd)

Session programme 

Welcome & Session Goals
•    What we’ll cover: recognising TK2d, key differentials, and diagnostic/referral pathway.
Introduction to Mitochondrial Depletion Disorders
•    Brief definition and why early recognition matters.
TK2d Overview: Signs & Symptoms
•    Core clinical features across ages (muscle weakness, respiratory involvement).
•    Red flags suggesting TK2d over other myopathies.
Differential Diagnosis
•    Key conditions to distinguish from TK2d (e.g., Pompe disease, SMA, congenital myopathies).
•    Simple clues that guide clinicians toward TK2d.
Diagnostic Pathway & Genetic Testing
•    Recommended investigations (basic labs, EMG, MRI if available).
•    Genetic confirmation via NGS panels/exome.
•    When to refer and to whom (neuromuscular / mitochondrial centres, clinical genetics).
Summary & Q&A
•    Recap of warning signs, diagnostic steps, and referral pathway.

Speaker

Dr Victoria Nesbitt - Consultant Paediatrician at Oxford University Hospitals and Honorary Senior Clinical Lecturer in Paediatrics at Oxford University.
Organisation: NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals

This is a UCB organised and funded symposium for UK and Ireland Healthcare Professionals.

This event is made possible by sponsorship from organisations including pharmaceutical companies, med tech companies and service providers who have provided sponsorship towards this independent programme. They have had no editorial input or control over the agenda, content development or choice of speakers, nor opportunity to influence except for the marked sponsored symposia. Sessions delivered with input from these organisations are marked as such on the programme and a list of all sponsors can be found on our sponsor page.

IE-DA-2600095    Date of preparation March 2026