What is spinal muscular atrophy?

  spinal muscular atrophy (SMA) is the most common neuromuscular disease in children, characterized by muscle weakness and atrophy caused by degeneration of alpha-motor neurons in the anterior horn of the spinal cord. The onset age of SMA patients varies greatly, from before birth to adulthood. It is mainly manifested as progressive muscle weakness and muscular atrophy mainly in the proximal extremities. As the disease progresses, multiple systems such as respiration, digestion and bone can be involved. There are five types of SMA based on age of onset, motor milestones, and progression of the disease. In recent years, clinical practice has tended to further divide each SMA type into subtypes in order to better understand the natural course of disease and observe drug efficacy.

                                / Research Background

  On May 14, 2023, the Guidelines for the Clinical Diagnosis and Treatment of Juvenile and Adult Spinal muscular Atrophy (hereinafter referred to as the Guidelines), jointly prepared by the China Rare Disease Alliance/Beijing Rare Disease Diagnosis and Treatment Society and Professor Cui Liying and Professor Dai Yi from the Neurology Department of Peking Union Medical College Hospital, were officially released in Beijing.

  In recent years, spinal muscular atrophy (SMA) has made great progress in multidisciplinary management and disease modification therapy, which has significantly improved the survival and quality of life of patients. However, there is a lack of systematic clinical guidelines for older adolescents and adults to standardize and guide clinical work. Based on the principles of evidence-based medicine, multidisciplinary experts from a number of SMA diagnosis and treatment centers across the country have fully discussed and reached a consensus, providing an important basis for the standardized diagnosis and treatment of SMA.

  The study involved 198 experts from 12 departments including neurology, imaging, psychological medicine, rehabilitation, orthopedics, anesthesiology, respiratory, endocrinology, gastroenterology, nutrition, stomatology, and pharmacy. In the clinical treatment of patients with spinal muscular atrophy (SMA), rehabilitation assessment and rehabilitation therapy are indispensable components.

Diagnosis and treatment management of rehabilitation medicine department

  In this guide, the content of diagnosis and treatment management of rehabilitation medicine is mainly studied from the perspective of rehabilitation assessment and rehabilitation management strategy, and a large number of clinical suggestions with great reference value are provided. Unlike children with young SMA, adolescents and adults with SMA have an increasing need for independent living, with higher requirements for limb function and daily living ability than children with SMA. Therefore, the rehabilitation assessment and rehabilitation treatment concepts for adolescents and adults with SMA in the guidelines are studied and demonstrated under the guidance of the theoretical system of the International Classification of Functioning, Disability and Health.

Rehabilitation assessment

  In the practice of rehabilitation management, the status of patients should be assessed regularly to help formulate and adjust rehabilitation plans at different stages. In the course of drug treatment, the result of rehabilitation assessment is also one of the important criteria to measure the efficacy. The evaluation program should comprehensively observe the patient's true performance in multiple dimensions, such as motor function, Angle of joint movement, degree of contracture, manual muscle strength, postural (postural) control, scoliosis and pelvic tilt, hip dislocation, sitting tolerance, thoracic morphology, fatigue, ability of daily living, social and home care, etc.

Rehabilitation management strategy

  Maintaining physical function and mobility is one of the main objectives of SMA rehabilitation management and rehabilitation therapy, thereby improving the quality of life of patients. ICF's concept of functional ontology involves three aspects of human being as a functional ontology: body function and structure, activity and participation.

  The rehabilitation management strategy section of this guide focuses on non-sedentary, sedentary, and actionable SMA patients, focusing on physical function and structure, taking into account patient activity and participation. Non-sedentary, sedentary, and walkable patients with SMA (especially adults) are classified based on functional status. (Recommendation: The classification of patients according to function and structure is derived from the functional characteristics of various patients in the SMA international classification (level III recommendation, level D evidence), but the definitions and boundaries of each type are incomplete and need to be verified and supplemented in practice in the future.)

  Summary of this paper

  The Guidelines for the Clinical Diagnosis and Treatment of Spinal Muscular Atrophy in Adolescents and Adults follow the guidance of the ICF theoretical framework in the diagnosis and treatment management of rehabilitation medicine, and fully consider the needs of adolescents and adults for limb function and daily living ability. This paper innovatively proposed the combination of motor function assessment, taking into account the heterogeneity and multi-systemic problems of SMA disease itself, and provided a more systematic evaluation system for rehabilitation treatment. In terms of rehabilitation treatment strategies, the "Guide" highlights the importance of family rehabilitation intervention, and provides scientific treatment ideas from three aspects: postural placement and posture control, joint extension and range of motion maintenance, active movement ability and daily function.

References:

[1] DAI Yi, CUI Liying, ZHANG Guangyu, Luo Jinmei, Xiao Yi, CUI Xulei, Chen Weiyun, SHEN Jianxiong. Clinical guidelines for spinal muscular atrophy in adolescents and adults [J]. Rare Diseases Research, 2019,2(02):231-255. (in Chinese)

[2] Branch of Medical Genetics, Beijing Medical Association, Beijing Society of Rare Disease Diagnosis and Treatment. Expert consensus on genetic diagnosis of spinal muscular atrophy [J]. Chinese Medical Journal, 2020, 100(40) : 3130-3140. (in Chinese) DOI: 10.3760/cma.j.cn112137-20200803-02267.