Diagnosis and new treatments in muscular dystrophies
- Dubowitz Neuromuscular Centre, Department of Paediatric Neurology, Great Ormond Street Hospital for Children & Institute of Child Health, London, UK
- Dr A Y Manzur, Dubowitz Neuromuscular Centre, Department of Paediatric Neurology, Great Ormond Street Hospital for Children & Institute of Child Health, London WC1N 3JH, UK; manzua{at}gosh.nhs.uk
- Received 3 February 2009
- Revised 10 March 2009
- Accepted 14 March 2009
Abstract
Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and limb girdle muscular dystrophies (LGMD) represent a significant proportion of paediatric and adult neuromuscular neurology practice. The proactive symptom-based multidisciplinary team (MDT) management and access to non-invasive ventilation have enabled improved survival into adulthood. Nevertheless the severe disability imposed by conditions such as DMD poses a challenge for successful transition of care and management for paediatric and adult neurology teams. DMD is discussed in detail as a paradigm illustrating diagnosis, management and role for different pharmacological interventions to improve survival, but also challenges in adulthood care, and cutting-edge therapies. LGMDs are much rarer than DMD and BMD, and in addition there is a significant genetic and clinical heterogeneity, which leads to diagnostic difficulties. The clinical and laboratory diagnostic features of seven LGMD subtypes are summarised, and their allelic “non-limb girdle” phenotypes are tabulated to illustrate the theme of one gene causing multiple clinical phenotypes, with the aim of refining the clinician’s diagnostic approach. The lessons learnt from DMD MDT management to improve survival are broadly applicable to LGMDs with severe motor disability/multisystem complications.
Footnotes
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Competing interests: None.
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Funding: AM is the lead clinician for UK North Star Clinical Network for Paediatric Neuromuscular Disorders, which is in part-funded by Muscular Dystrophy Campaign UK. FM is the principal investigator of two phase I/IIa trials using morpholino antisense oligomers in Duchenne muscular dystrophy and is involved as an Investigator in a PTC124 sponsored trial. The antisense studies are funded by the Department of Health; the second study is funded by the Medical Research Council and AVI Biopharma.
