Using brain imaging to study myotonic dystrophy

Dr Vivekananda will look at brain activity in people with type-1 myotonic dystrophy to determine measurements that are useful for prognosis and clinical trials.
Dr Vivekananda will look at brain activity in people with type-1 myotonic dystrophy to determine measurements that are useful for prognosis and clinical trials.

Background

Myotonic dystrophy is a genetic condition that causes progressive muscle weakness and wasting. It typically affects muscles of movement and, commonly, the electrical conduction system of the heart, breathing muscles, swallowing muscles, bowels, lens of the eye, and brain.

People with type-1 myotonic dystrophy also experience problems of their central nervous system (CNS), for example fatigue and depression, although the contribution of the CNS to symptoms is complex and poorly understood.

What are the aims of the project?

Dr Vivekananda aims to investigate functional brain activity in people with type-1 myotonic dystrophy, using a technique known as magnetoencephalography (MEG) to measure whole-brain activity. Alongside this, he will assess cognitive abilities, how people look at – and analyse – objects, working memory and attention. The aim of the project is to identify biomarkers (measurements that can be used to determine prognosis, or can be used in clinical trials) that could be used for clinical assessment of treatments that target the CNS, and to improve patient care.

Why is this research important?

This project is a study pilot using a limited number of people. If the results from this study show promise, larger-scale studies can be done with the goal of providing relevant measurements of CNS function in people with type-1 myotonic dystrophy. If successful, this technique may be employed in the measurement of other neuromuscular conditions in which there is CNS involvement.

Call to action

Professor Eric Schirmer and his team at the University of Edinburgh aim to identify important genes that underlie Emery-Dreifuss muscular dystrophy (EDMD). This will improve our understanding of what goes wrong in muscle with EDMD, which is key to developing potential treatments.