Limb girdle muscular dystrophies

Limb girdle muscular dystrophies (LGMD) encompass inherited muscle disorders that are named after the distribution of muscle weakness. They manifest with symmetrical and progressive weakness of the limb girdle muscle groups – muscles of the hip/thigh and shoulder/upper arm – in due course evolving to more generalized muscle weakness and may also affect the heart and respiratory muscles. The objective of this thesis was to investigate the role of deep phenotyping in the diagnosis and classification of LGMD. The introduction focuses on the classification of LGMD and the different ancillary investigations available for the diagnosis of LGMD. In the first part of the thesis we investigated if muscle imaging could be helpful in identifying LGMD subtypes and could differentiate LGMD from other muscle disease. In the second part we report on clinico-genetic analyses of LGMD patients in the Netherlands. The thesis concludes with a general discussion in which we propose a guideline for the evaluation of patients presenting with limb girdle muscle weakness and propose directions for future research.