Limb girdle muscular dystrophy was first described as a clinical entity in 1954. It wasn’t until the 1990s, however, as understanding of the disease developed further, that the number of different genes associated with LGMD began to be understood and the links between the affected gene and the clinical picture could begin to be established. Further advances have now established more than 20 different types of LGMD, classified according to the gene affected. Even so, there are still some patients showing typical LGMD symptoms in whom a known mutation is not found, so this number may still increase in future.
There are still no drug treatments affecting the course of LGMD or correcting the underlying genetic defect, but optimal management of the condition can make an enormous difference to the quality of life of affected individuals. Particularly in those types of LGMD where the heart or respiratory muscles may be involved, careful monitoring and timely intervention is crucial.
However, the history of difficult disease diagnosis coupled with the rarity of the condition has resulted in a great deal of variation in the care that people with LGMD receive. Medical professionals who diagnose and care for people with neuromuscular diseases do not always have the required expertise to recognise LGMD or to ensure its optimal management.
Several useful articles provide a good overview of best practice in diagnosis and management of LGMD.
The ‘EFNS guideline on diagnosis and management of limb girdle muscular dystrophies’ was published in 2007. Available for download below, the document provides an overview of the following areas: clinical assessment, specific clinical pointers/indicators, investigation, respiratory management, cardiac management, good practice points, physical management, genetic counselling and also drug treatment.
|EFNS guideline on diagnosis and management of limb girdle muscular dystrophies.|
Norwood F, de Visser M, Eymard B, Lochmüller H, Bushby K; EFNS Guideline Task Force.
Eur J Neurol. 2007 Dec;14(12):1305-12.
An overview from Practical Neurology aimed at clinicians provides details of the LGMD types and information on diagnosis and management.
Pract Neurol. 2009 Dec;9(6):314-23