Uma Veerappan

• MBBS (NUMed Malaysia)
• Assessment in disease progression in muscle using quantative magnetic resonance imaging and spectroscopy in a natural history study of dysferlinopathy

Dyferlinopathy is a rare hereditary condition that affects the body’s conducting system and muscles. This disorder is caused by a decrease in the dysferlin protein that is required for normal muscle functioning. As a result, patients manifest a group of rare muscle wasting disorders. They typically present with the condition in early adulthood and symptoms associated with this disorder are highly variable (for reasons which are not yet understood), ranging from no symptoms to severe functional disability. As the disease progresses over time, healthy muscles are gradually replaced by fat. This project aims to assess the disease progression in 27 subjects from baseline to year 1 using quantitative magnetic resonance techniques. By measuring disease progression, accurate details regarding full clinical spectrum of different forms of dysferlinopathy can be collected. This can then aid in assessing efficacy of potential therapies as there is no cure for this disorder yet.

Funding source: Newcastle University

Supervisor: Dr Fiona Elizabeth Smith