Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

被引：750

作者：

Mercuri, Eugenio ^{[1
,2
]}

Finkel, Richard S. ^{[3
]}

Muntoni, Francesco ^{[4
,5
]}

Wirth, Brunhilde ^{[6
,7
]}

Montes, Jacqueline ^{[8
,9
]}

Main, Marion ^{[4
,5
]}

Mazzone, Elena S. ^{[1
,2
]}

Vitale, Michael ^{[10
]}

Snyder, Brian ^{[11
]}

Quijano-Roy, Susana ^{[12
,13
]}

Bertini, Enrico ^{[14
]}

Davis, Rebecca Hurst ^{[15
]}

Meyer, Oscar H. ^{[16
]}

Simonds, Anita K. ^{[17
]}

Schroth, Mary K. ^{[18
]}

Graham, Robert J. ^{[19
]}

Kirschner, Janbernd ^{[20
]}

Iannaccone, Susan T. ^{[21
,22
,23
]}

Crawford, Thomas O. ^{[24
]}

Woods, Simon ^{[25
]}

Qian, Ying ^{[26
]}

Sejersen, Thomas ^{[27
]}

机构：

[1] Catholic Univ, Paediat Neurol Unit, Rome, Italy

[2] Policlin Gemelli, Ctr Clin Nemo, Rome, Italy

[3] Univ Cent Florida, Coll Med, Nemours Childrens Hosp, Orlando, FL 32816 USA

[4] UCL Great Ormond St Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England

[5] Great Ormond St Hosp Sick Children, London, England

[6] Univ Cologne, Ctr Rare Dis, Ctr Mol Med, Inst Human Genet, Cologne, Germany

[7] Univ Cologne, Inst Genet, Cologne, Germany

[8] Columbia Univ, Med Ctr, Dept Rehabil & Regenerat Med, New York, NY USA

[9] Columbia Univ, Dept Neurol, Med Ctr, New York, NY USA

[10] Columbia Univ, Med Ctr, Dept Orthopaed Surg, New York, NY USA

[11] Harvard Med Sch, Childrens Hosp, Dept Orthopaed Surg, Boston, MA USA

[12] Hop Raymond Poincare, AP HP, Dept Pediat Intens Care Neurol & Rehabil, Unit Neuromuscular Disorders, Garches, France

[13] Univ Versailles St Quentin En Yvelines UVSQ, Hop Univ Paris Ile de France Ouest, INSERM, U1179, Paris, France

[14] Bambino Gesu Childrens Res Hosp, Dept Neurosci & Neurorehabil, Unit Neuromuscular & Neurodegenerat Disorders, Rome, Italy

[15] Univ Utah, Intermt Healthcare, Salt Lake City, UT USA

[16] Childrens Hosp Philadelphia, Div Pulmonol, Philadelphia, PA 19104 USA

[17] Royal Brompton & Harefield NHS Fdn Trust, NIHR Resp Biomed Res Unit, London, England

[18] Univ Wisconsin, Dept Pediat, Sch Med & Publ Hlth, Div Pediat Pulm,Amer Family Childrens Hosp, Madison, WI USA

[19] Harvard Med Sch, Boston Childrens Hosp, Dept Anesthesiol Perioperat & Pain Med, Div Crit Care, Boston, MA USA

[20] Univ Freiburg, Fac Med, Med Ctr, Dept Neuropediat & Muscle Disorders, Freiburg, Germany

[21] Univ Texas Southwestern Med Ctr Dallas, Div Pediat Neurol, Dept Pediat, Dallas, TX 75390 USA

[22] Univ Texas Southwestern Med Ctr Dallas, Div Pediat Neurol, Dept Neurol & Neurotherapeut, Dallas, TX 75390 USA

[23] Childrens Med Ctr, Dallas, TX 75235 USA

[24] Johns Hopkins Univ, Dept Neurol, Baltimore, MD 21218 USA

[25] Newcastle Univ, Policy Eth & Life Sci Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England

[26] SMA Fdn, New York, NY USA

[27] Karolinska Inst, Dept Womens & Childrens Hlth, Paediat Neurol, Stockholm, Sweden

来源：

NEUROMUSCULAR DISORDERS | 2018年 / 28卷 / 02期

关键词：

Spinal muscular atrophy; Care; Diagnosis; Orthopedic; Phisotherapy; Nutrition; EARLY-ONSET SCOLIOSIS; CONTROLLED GROWING RODS; MOTOR-NEURON GENE; SMN2 COPY NUMBER; NEUROMUSCULAR SCOLIOSIS; CLINICAL-TRIALS; PHENOTYPIC VARIABILITY; CONSENSUS STATEMENT; OPERATIVE TREATMENT; GLUCOSE-METABOLISM;

D O I：

10.1016/j.nmd.2017.11.005

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

Spinal muscular atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Its incidence is approximately 1 in 11,000 live births. In 2007, an International Conference on the Standard of Care for SMA published a consensus statement on SMA standard of care that has been widely used throughout the world. Here we report a two-part update of the topics covered in the previous recommendations. In part 1 we present the methods used to achieve these recommendations, and an update on diagnosis, rehabilitation, orthopedic and spinal management; and nutritional, swallowing and gastrointestinal management. Pulmonary management, acute care, other organ involvement, ethical issues, medications, and the impact of new treatments for SMA are discussed in part 2. (C) 2017 Published by Elsevier B.V.

引用

页码：103 / 115

页数：13

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