Diagnosis and new treatments in muscular dystrophies

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 85; no. 1009; pp. 622 - 714
• Main Authors: Manzur, A Y, Muntoni, F
• Format: Journal Article Book Review
• Language: English
• Published: London The Fellowship of Postgraduate Medicine 01.11.2009; BMJ Publishing Group; BMJ Publishing Group LTD; Oxford University Press
• Subjects: Adrenal Cortex Hormones - therapeutic use; Adult; Biological and medical sciences; Biopsy; Child; Child development; Diseases of striated muscles. Neuromuscular diseases; General aspects; Genes; Genotype & phenotype; Humans; Hypotheses; Kinases; Medical sciences; Muscular Dystrophies - complications; Muscular Dystrophies - diagnosis; Muscular Dystrophies - genetics; Muscular Dystrophies - physiopathology; Muscular Dystrophies - therapy; Muscular Dystrophies, Limb-Girdle - diagnosis; Muscular Dystrophies, Limb-Girdle - therapy; Muscular dystrophy; Muscular Dystrophy, Duchenne - diagnosis; Muscular Dystrophy, Duchenne - therapy; Mutation; Neurology; Physical therapy; Physical Therapy Modalities; Proteins; Scoliosis; Sleep Apnea Syndromes - etiology; Sleep Apnea Syndromes - therapy; Steroids; Treatment Outcome; Young adults; Neuromuscular diseases; Nervous system diseases; Treatment; Diagnosis; Muscular dystrophy; Genetic disease; Medicine; MUSCULAR DYSTROPHY
• ISSN: 0032-5473; 0022-3050; 1469-0756; 1468-330X
• DOI: 10.1136/jnnp.2008.158329

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.