Kate Bushby1, Volker Straub. 1. Newcastle upon Tyne Muscle Centre, Institute of Human Genetics, International Centre for Life, Central Parkway, Newcastle upon Tyne, UK. kate.bushby@ncl.ac.uk
Abstract
PURPOSE OF REVIEW: This review highlights emerging evidence on the management of patients with muscular dystrophies. RECENT FINDINGS: New diagnostic modalities based on muscle biopsy and DNA analysis mean that diagnoses within the heterogeneous group of muscular dystrophies can be much more precise; also, as the phenotypes associated with these different disorders are clarified, new management implications can be recognized. At the same time, the spread of evidence based medicine into this area has led to an increase in clinical trial activity and the development of evidence based guidelines. Because many if not all muscular dystrophies are multisystem disorders, these guidelines relate not only to the limited number of interventions aimed at improving strength but also to the management of potentially life threatening complications. SUMMARY: Because specific diagnoses carry specific management implications in many areas for these hitherto rather neglected disorders, a more proactive approach to patients with muscular dystrophies is needed. Complications involving, for example, the cardiovascular, respiratory and gastrointestinal systems may need to be sought and actively managed, whereas caution for complications of anaesthesia and other interventions may also be necessary. However, areas remain where there is little evidence from which practice guidelines can be developed and these will need to be addressed with well planned clinical trials.
PURPOSE OF REVIEW: This review highlights emerging evidence on the management of patients with muscular dystrophies. RECENT FINDINGS: New diagnostic modalities based on muscle biopsy and DNA analysis mean that diagnoses within the heterogeneous group of muscular dystrophies can be much more precise; also, as the phenotypes associated with these different disorders are clarified, new management implications can be recognized. At the same time, the spread of evidence based medicine into this area has led to an increase in clinical trial activity and the development of evidence based guidelines. Because many if not all muscular dystrophies are multisystem disorders, these guidelines relate not only to the limited number of interventions aimed at improving strength but also to the management of potentially life threatening complications. SUMMARY: Because specific diagnoses carry specific management implications in many areas for these hitherto rather neglected disorders, a more proactive approach to patients with muscular dystrophies is needed. Complications involving, for example, the cardiovascular, respiratory and gastrointestinal systems may need to be sought and actively managed, whereas caution for complications of anaesthesia and other interventions may also be necessary. However, areas remain where there is little evidence from which practice guidelines can be developed and these will need to be addressed with well planned clinical trials.