Dear colleagues, 

I am writing on behalf of Dr Grace McMacken (Queen's University Belfast) to invite you to contribute to an international case series examining the co-occurrence of facioscapulohumeral muscular dystrophy (FSHD) and myasthenia gravis (MG).

Background
A recently published UK multicentre study (McMacken et al., JNNP 2026) identified a fivefold higher than expected co-occurrence of AChR-positive MG in patients with genetically confirmed FSHD, suggesting a non-random biological association. This international case series, supported by the NMJ Working Group of ERN EURO-NMD, aims to further characterise the clinical phenotype of this rare combination in a larger international cohort.

What we are looking for
We are seeking cases of patients with:
- Confirmed diagnosis of FSHD (genetic or clinical with supportive features)
- Co-existing confirmed diagnosis of MG (clinical, serological and/or neurophysiological criteria)

Further information on the study is attached.

How to express interest
If you have one or more eligible patients and are interested in contributing, please contact Dr. Grace McMacken directly at g.mcmacken@qub.ac.uk. She will then send you the full study pack including the data collection form and collaboration agreement.

Data submission deadline: 18th September 2026

We very much hope you will be able to contribute to this important study.

With best wishes,

Dr. Teresinha Evangelista
On behalf of Dr Grace McMacken, Queen's University Belfast
and the NMJ Working Group, ERN EURO-NMD

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