FSHD in focus - A five-year follow-up study on clinical outcome measures and muscle imaging

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is an incurable hereditary muscle disease. People with FSHD experience slowly progressive muscle weakness. This increase in muscle weakness is difficult to measure in the consultation room, which makes it challenging to evaluate new treatments for FSHD. This thesis describes the progressive muscle weakness of FSHD patients over a five-year period and explores better ways to measure this progression. One study showed that commonly used measures are not suitable for short studies of 1 to 2 years, because they are not sensitive enough to detect changes. Another study shows that MRI is better able to detect such changes, but more evidence is needed to link MRI findings to muscle strength, so MRI cannot yet be used as an endpoint in studies testing a new treatment. From the ultrasound studies, it appears that the use of muscle ultrasound is particularly useful for detecting early muscle abnormalities.