Diagnosis and new treatments in muscular dystrophies

被引:0
作者
Manzur, A. Y. [1 ]
Muntoni, F.
机构
[1] Great Ormond St Hosp Sick Children, Dept Paediat Neurol, Dubowitz Neuromuscular Ctr, London WC1N 3JH, England
基金
英国医学研究理事会;
关键词
RANDOMIZED CONTROLLED-TRIAL; GENE-MUTATIONS; NEUROMUSCULAR DISORDERS; NONSENSE MUTATIONS; DISTAL MYOPATHY; MUSCLE MRI; DUCHENNE; VENTILATION; PHENOTYPES; SURVIVAL;
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:622 / 630
页数:9
相关论文
共 82 条
[1]   Caveolinopathy - New mutations and additional symptoms [J].
Aboumousa, Ahmed ;
Hoogendijk, Jessica ;
Charlton, Richard ;
Barresi, Rita ;
Herrmann, Ralf ;
Voit, Thomas ;
Hudson, Judith ;
Roberts, Mark ;
Hilton-Jones, David ;
Eagle, Michelle ;
Bushby, Kate ;
Straub, Volker .
NEUROMUSCULAR DISORDERS, 2008, 18 (07) :572-578
[2]   Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology [J].
Alter, J ;
Lou, F ;
Rabinowitz, A ;
Yin, HF ;
Rosenfeld, J ;
Wilton, SD ;
Partridge, TA ;
Lu, QL .
NATURE MEDICINE, 2006, 12 (02) :175-177
[3]   Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene [J].
Ashton, Emma J. ;
Yau, Shu C. ;
Deans, Zandra C. ;
Abbs, Stephen J. .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2008, 16 (01) :53-61
[4]   An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene [J].
Balci, B ;
Uyanik, G ;
Dincer, P ;
Gross, C ;
Willer, T ;
Talim, B ;
Haliloglu, G ;
Kale, G ;
Hehr, U ;
Winkler, J ;
Topaloglu, H .
NEUROMUSCULAR DISORDERS, 2005, 15 (04) :271-275
[5]   Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice [J].
Barton-Davis, ER ;
Cordier, L ;
Shoturma, DI ;
Leland, SE ;
Sweeney, HL .
JOURNAL OF CLINICAL INVESTIGATION, 1999, 104 (04) :375-381
[6]   Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance [J].
Beckmann, Jacques S. ;
Spencer, Melissa .
NEUROMUSCULAR DISORDERS, 2008, 18 (12) :913-921
[7]   Intermittent prednisone therapy in Duchenne muscular dystrophy - A randomized controlled trial [J].
Beenakker, EAC ;
Fock, JM ;
Van Tol, MJ ;
Maurits, NM ;
Koopman, HM ;
Brouwer, OF ;
Van der Hoeven, JH .
ARCHIVES OF NEUROLOGY, 2005, 62 (01) :128-132
[8]   Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade [J].
Biggar, WD ;
Harris, VA ;
Eliasoph, L ;
Alman, B .
NEUROMUSCULAR DISORDERS, 2006, 16 (04) :249-255
[9]  
Bonne G, 2000, ANN NEUROL, V48, P170, DOI 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO
[10]  
2-J