Clinical Practice Guideline for Adolescent &amp; Adult Patients with Spinal Muscular Atrophy

Rare Disease Society of Chinese Research Hospital Association; China Alliance for Rare Diseases; Beijing Society of Rare Disease Clinical Care and Accessibility; China Expert Group for Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy

doi:10.12376/j.issn.2097-0501.2023.03.009

Journal of Rare Diseases > 2023 > 2(3): 377-397. > DOI: 10.12376/j.issn.2097-0501.2023.03.009

Rare Disease Society of Chinese Research Hospital Association, China Alliance for Rare Diseases, Beijing Society of Rare Disease Clinical Care and Accessibility, China Expert Group for Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy. Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy[J]. Journal of Rare Diseases, 2023, 2(3): 377-397. DOI: 10.12376/j.issn.2097-0501.2023.03.009

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Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy

1.
Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China
2.
State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

Funds:

National High Level Hospital Clinical Research Funding 2022-PUMCH-D-002

National High Level Hospital Clinical Research Funding 2022-PUMCH-B-014

Supported by Center for Rare Diseases Research, Chinese Academy of Medical Sciences, Beijing, China

More Information

Corresponding authors: DAI Yi^{1, 2}, E-mail: pumchdy@pumch.cn
CUI Liying^{1, 2}, E-mail: pumchcuily@sina.com
Received Date: June 13, 2023
Accepted Date: June 19, 2023
Available Online: September 08, 2023

Graphical Abstract

Abstract

Abstract

In recent years, spinal muscular atrophy (SMA) has made progress in multidisciplinary treatment and disease-modifying therapeutic drugs, so that the progress has significantly improved the survival and quality of life of the patients. However, no clinical practice guideline has developed for the management of SMA in adults and adolescents patients. Experts of multidisciplinary from a number of tertiary medical centers in China who specialize in the diagnosis and treatment of SMA have come to an agreement based on the evidence-based medicine. This guideline serves as instrumental reference for the standardized care of the Chinese SMA patients.
- spinal muscular atrophy,
- diagnosis,
- multidisciplinary treatment,
- disease modifying therapy

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References (102)

References

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Clinical Practice Guideline for Adolescent & Adult Patients with Spinal Muscular Atrophy