A Multidimensional Profile of Dysphagia in People Living With Myotonic Dystrophy Type 1 (plwDM1)

This study will explore swallowing difficulties (dysphagia) caused by Myotonic Dystrophy Type 1 (DM1). Dysphagia causes food, drink and saliva to travel onto the lungs (aspiration) and can lead to pneumonia. Aspiration pneumonia is frequent and accounts for over 40% of deaths in DM1. Dysphagia also causes fear and anxiety which can lead to permanent lifestyle changes.

A better understanding of dysphagia in DM1 will improve our assessment and treatment and reduce its life-changing consequences. This research aims to define the dysphagia profile of people with DM1 (pwDM1) across the domains of structure, function, experience, and wellbeing by:

1. Investigating the size and structure of muscles involved in swallowing in patients with and without DM1.
2. Exploring how muscle size and structure are associated with i) swallowing function and ii) symptoms
3. Exploring how swallowing function is associated with i) symptoms, ii) patient and caregiver wellbeing and iii) other aspects of DM1 such as walking and breathing.

People aged 18+ with a confirmed diagnosis of DM1 will be invited to take part. Approximately 90 pwDM1 will be recruited. They will undergo a battery of tests including:

• Ultrasound (US) assessment of the muscles involved in swallowing
• An x-ray swallowing study (known as videofluoroscopy)
• Assessment of swallowing symptoms, including questionnaires
• Assessments of mobility, activity and breathing
• Assessments of quality of life and wellbeing