Rehabilitation management for patients with spinal muscular atrophy: a review

被引：0

作者：

Song, Wei ^{[1
]}

Ke, Xiaohua ^{[1
]}

机构：

[1] Tongji Univ, Shanghai Peoples Hosp 4, Sch Med, Dept Rehabil Med, Shanghai, Peoples R China

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2025年 / 20卷 / 01期

关键词：

Spinal muscular atrophy; Rehabilitation; Management; MUSCLE STRENGTH; CEREBRAL-PALSY; LUNG-FUNCTION; DIAGNOSIS; DYSPHAGIA; CHILDREN; TYPE-2;

D O I：

10.1186/s13023-025-03888-w

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The rehabilitation management of patients with spinal muscular atrophy is a complex, multidisciplinary process aimed at slowing disease progression, preventing complications, and enhancing patients' quality of life. Key components include motor function management, respiratory function support, swallowing function management, posture alignment, and the use of assistive devices. The various types of spinal muscular atrophy differ significantly in symptoms, progression rates, and severity, which poses unique challenges in rehabilitation management.

引用

页数：11

共 59 条

[1]

Albuquerque ALA., 2024, Brain Commun, V6, pfca

[2] SPINAL MUSCULAR ATROPHY: DIAGNOSIS AND MANAGEMENT IN A NEW THERAPEUTIC ERA [J].

Arnold, W. David ;

Kassar, Darine ;

Kissel, John T. .

MUSCLE & NERVE, 2015, 51 (02) :157-167

[3] The Role of Genetic Counseling in Pompe Disease After Patients Are Identified Through Newborn Screening [J].

Atherton, Andrea M. ;

Day-Salvatore, Debra .

PEDIATRICS, 2017, 140

[4] Physical exercise training for type 3 spinal muscular atrophy [J].

Bartels, Bart ;

Montes, Jacqueline ;

van der Pol, W. Ludo ;

de Groot, Janke F. .

COCHRANE DATABASE OF SYSTEMATIC REVIEWS, 2019, (03)

[5] Patient organizations and conflict of interest Voluntary disclosure isn't working [J].

Bruno, Bethany ;

Rose, Susannah .

BMJ-BRITISH MEDICAL JOURNAL, 2019, 364

[6] Advancing Rehabilitation Medicine with the Metaverse: Opportunities and Challenges [J].

Calabro, Rocco Salvatore ;

Morone, Giovanni .

BRAIN SCIENCES, 2025, 15 (03)

[7] Dysphagia in multiple system atrophy consensus statement on diagnosis, prognosis and treatment [J].

Calandra-Buonaura, Giovanna ;

Alfonsi, Enrico ;

Vignatelli, Luca ;

Benarroch, Eduardo E. ;

Giannini, Giulia ;

Iranzo, Alex ;

Low, Phillip A. ;

Martinelli, Paolo ;

Provini, Federica ;

Quinn, Niall ;

Tolosa, Eduardo ;

Wenning, Gregor K. ;

Abbruzzese, Giovanni ;

Bower, Pamela ;

Antonini, Angelo ;

Bhatia, Kailash P. ;

Bonavita, Jacopo ;

Pellecchia, Maria Teresa ;

Pizzorni, Nicole ;

Tison, Francois ;

Ghorayeb, Imad ;

Meissner, Wassilios G. ;

Ozawa, Tetsutaro ;

Pacchetti, Claudio ;

Pozzi, Nicolo Gabriele ;

Vicini, Claudio ;

Schindler, Antonio ;

Cortelli, Pietro ;

Kaufmann, Horacio .

PARKINSONISM & RELATED DISORDERS, 2021, 86 :124-132

[8] Cough and airway clearance in Duchenne muscular dystrophy [J].

Camela, F. ;

Gallucci, M. ;

Ricci, G. .

PAEDIATRIC RESPIRATORY REVIEWS, 2019, 31 :35-39

[9]

Catteruccia Michela, 2015, J Neuromuscul Dis, V2, P453

[10]

China Alliance for Rare Diseases, 2024, Report| Follow-up survey on the current status of diagnosis and treatment of spinal muscular atrophy in China[EB/OL]

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