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A study of balance in people with type-1 myotonic dystrophy

Dr Kaski and his team will study balance in people with type-1 myotonic dystrophy. Their aim is to define the characteristics of the condition that may be used as a “biomarker” that predicts how the condition will develop.
Details
Principal Investigator
Dr Diego Kaski
Institute
University College London
Official title
Understanding the cause of falls and imbalance in myotonic dystrophy type 1
Duration
12 months
Total cost
£40,000

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.

One issue for people with type-1 myotonic dystrophy is imbalance, which is associated with a high risk of falls. The key factors that cause imbalance are poorly understood.

What are the aims of the project?

Dr Kaski aims to make a comprehensive and detailed assessment of balance in patients with type-1 myotonic dystrophy, using electromyography (a standard technique used to measure muscle function in people with neuromuscular conditions), and 3D motion capture. The results of these studies will be compared with data from subjects who do not have myotonic dystrophy.

Why is this research important?

This study will contribute to a better understanding of imbalance in people with type-1 myotonic dystrophy. The study may help to identify biomarkers (measurements that can be used to determine prognosis or can be used in clinical trials) of fall risk in patients with type-1 myotonic dystrophy.

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