Making the diagnosis of a particular type of limb girdle muscular dystrophy (LGMD) can appear challenging. In fact, various clues from the way the patient presents, and the results of simple investigations such as creatine kinase levels, can be extremely helpful in sorting out the various disease entities within this group of patients. The results of more specialised testing of the muscle biopsy and DNA sequencing offer the prospect of a clear answer in around 75% of cases. As more is understood about the clinical features of the different types of LGMD, targeted management is increasingly possible, especially focusing on those patients at high risk of cardiac and respiratory complications.
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Competing interests None.
Funding The Newcastle Muscle Centre is funded by the Muscular Dystrophy Campaign, the Medical Research Council and the European Union (TREAT-NMD contract number EC 036825).
Detail has been removed from these case illustrations to ensure anonymity. The editor and reviewer have seen the detailed information available and are satisfied that the information backs up the case the author is making.
Provenance and peer review: Commissioned; externally peer reviewed.