Muscular Dystrophies

被引：66

作者：

Carter, John C. ^{[1
]}

Sheehan, Daniel W. ^{[2
]}

Prochoroff, Andre ^{[3
]}

Birnkrant, David J. ^{[4
]}

机构：

[1] Case Western Reserve Univ, Sch Med, MetroHlth Med Ctr, Div Pulm Crit Care & Sleep Med, 2500 MetroHlth Dr, Cleveland, OH 44019 USA

[2] Univ Buffalo, John R Oishei Childrens Hosp, Div Pediat Pulmonol, 955 Main St, Buffalo, NY 14203 USA

[3] Case Western Reserve Univ, Sch Med, MetroHlth Med Ctr, Div Pediat Neurol, 2500 MetroHlth Dr, Cleveland, OH 44019 USA

[4] Case Western Reserve Univ, Sch Med, MetroHlth Med Ctr, Div Pediat Pulmonol, 2500 MetroHlth Dr, Cleveland, OH 44019 USA

来源：

CLINICS IN CHEST MEDICINE | 2018年 / 39卷 / 02期

关键词：

Muscular dystrophy; Duchenne muscular dystrophy; Limb girdle muscular dystrophy; Facioscapulohumeral muscular dystrophy; Respiratory failure; Cardiomyopathy; PEDIATRIC NEUROMUSCULAR DISEASES; LUNG-VOLUME RECRUITMENT; NONINVASIVE VENTILATION; CORTICOSTEROID TREATMENT; PULMONARY-FUNCTION; VITAL CAPACITY; RESPIRATORY-FUNCTION; PROLONGED SURVIVORS; PALLIATIVE CARE; DUCHENNE;

D O I：

10.1016/j.ccm.2018.01.004

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and minimal respiratory compromise. The list and classification of muscular dystrophies are undergoing near-constant revision, based largely on new insights from genetics and molecular medicine. The authors present an overview of the muscular dystrophies, including their basic features, common clinical phenotypes, and important facets of management.

引用

页码：377 / +

页数：15

共 71 条

[1] Long term continuous positive airway pressure (CPAP) and noninvasive ventilation (NIV) in children: Initiation criteria in real life [J].

Amaddeo, A. ;

Moreau, J. ;

Frapin, A. ;

Khirani, S. ;

Felix, O. ;

Fernandez-Bolanos, M. ;

Ramirez, A. ;

Fauroux, B. .

PEDIATRIC PULMONOLOGY, 2016, 51 (09) :968-974

[2] A Comprehensive Genomic Approach for Neuromuscular Diseases Gives a High Diagnostic Yield [J].

Ankala, Arunkanth ;

da Silva, Cristina ;

Gualandi, Francesca ;

Ferlini, Alessandra ;

Bean, Lora J. H. ;

Collins, Christin ;

Tanner, Alice K. ;

Hegde, Madhuri R. .

ANNALS OF NEUROLOGY, 2015, 77 (02) :206-214

[3]

[Anonymous], 1999, CHEST, V116, P521

[4] PALLIATIVE CARE SERVICES IN FAMILIES OF MALES WITH DUCHENNE MUSCULAR DYSTROPHY [J].

Arias, Rebeca ;

Andrews, Jennifer ;

Pandya, Shree ;

Pettit, Kathleen ;

Trout, Christina ;

Apkon, Susan ;

Karwoski, Jane ;

Cunniff, Christopher ;

Matthews, Dennis ;

Miller, Timothy ;

Davis, Melinda F. ;

Meaney, F. John .

MUSCLE & NERVE, 2011, 44 (01) :93-101

[5] Changing Trends in the Management of End-Stage Neuromuscular Respiratory Muscle Failure Recommendations of an International Consensus [J].

Bach, John R. ;

Goncalves, Miguel R. ;

Hon, Alice ;

Ishikawa, Yuka ;

Luis De Vito, Eduardo ;

Prado, Francisco ;

Eugenia Dominguez, Marie .

AMERICAN JOURNAL OF PHYSICAL MEDICINE & REHABILITATION, 2013, 92 (03) :267-277

[6] Duchenne Muscular Dystrophy: Continuous Noninvasive Ventilatory Support Prolongs Survival [J].

Bach, John R. ;

Martinez, Daniel .

RESPIRATORY CARE, 2011, 56 (06) :744-750

[7] Extubation of Patients With Neuromuscular Weakness A New Management Paradigm [J].

Bach, John Robert ;

Concalves, Miguel R. ;

Hamdani, Irram ;

Winck, Joao Carlos .

CHEST, 2010, 137 (05) :1033-1039

[8] Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy [J].

Barp, Andrea ;

Bello, Luca ;

Politano, Luisa ;

Melacini, Paola ;

Calore, Chiara ;

Polo, Angela ;

Vianello, Sara ;

Soraru, Gianni ;

Semplicini, Claudio ;

Pantic, Boris ;

Taglia, Antonella ;

Picillo, Ester ;

Magri, Francesca ;

Gorni, Ksenija ;

Messina, Sonia ;

Vita, Gian Luca ;

Vita, Giuseppe ;

Comi, Giacomo P. ;

Ermani, Mario ;

Calvo, Vincenzo ;

Angelini, Corrado ;

Hoffman, Eric P. ;

Pegoraro, Elena .

PLOS ONE, 2015, 10 (10)

[9] Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders [J].

Bersanini, Chiara ;

Khirani, Sonia ;

Ramirez, Adriana ;

Lofaso, Frederic ;

Aubertin, Guillaume ;

Beydon, Nicole ;

Mayer, Michele ;

Maincent, Kim ;

Boule, Michele ;

Fauroux, Brigitte .

EUROPEAN RESPIRATORY JOURNAL, 2012, 39 (05) :1206-1212

[10] Clinical and genetic heterogeneity in laminopathies [J].

Bertrand, Anne T. ;

Chikhaoui, Khadija ;

Ben Yaou, Rabah ;

Bonne, Gisele .

BIOCHEMICAL SOCIETY TRANSACTIONS, 2011, 39 :1687-1692

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