Neila Alves de Queiroz, R. A. Monteiro, Marylia Paula Bezerra, M. Christoffersen
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引用次数: 0
Abstract
The SPOAN syndrome is a neurodegenerative disease of autosomal recessive inheritance that causes atrophy of muscles of the upper and lower limbs of the affected individuals. The disease had its initial characterization carried out in individuals originating in the upper western part of the city of Serrinha dos Pintos, State of Rio Grande do Norte, by researchers from the Center for Human Genome Studies and Hospital das Clinicas of the University of Sao Paulo in the year 2005. Its clinical characteristics include: congenital and atrophic optic atrophy Progressive spastic paraplegia, with early onset of life, axonal neuropathy, with clinical onset after the first decade of life, startle response with unexpected sounds, dysarthria, spinal and foot deformities, and extrapyramidal signs. The present text aims to report the cases of patients with SPOAN under the physiotherapeutic assistance of the Expanded Nucleus of Family Health (NASF) in the city of Serrinha dos Pintos-RN. Experience report: This is an experience report on the care of patients with SPOAN syndrome assisted by the municipality's NASF. In the municipality there were 14 patients with SPOAN, but only 4 (28.5%) of these patients attended the physiotherapeutic care. The treatment lasted an average of 40-50 minutes, with moderate resting pauses between sessions. They consisted of: passive joint mobilization exercises, scapular and pelvic girdle dissociation exercises, intra-articular mobilization exercises, stretching, muscle strengthening , respiratory exercises, myofascial release, Kabat methods, Bobath and Pilates, electrotherapy, and auriculotherapy. Final considerations: Physiotherapic care given to patients with SPOAN syndrome is considered to be extremely important for the preservation of functionality of these patients, since there is a satisfactory clinical evolution, with improvement of muscular strength and flexibility, range of joint movement and respiratory capacity. Therefore, future studies regarding the diagnosis and prognosis of SPOAN are necessary, since early appropriate therapeutic intervention allows the best functional outcome.
SPOAN综合征是一种常染色体隐性遗传的神经退行性疾病,导致患者上肢和下肢肌肉萎缩。2005年,圣保罗大学人类基因组研究中心和临床医院的研究人员对来自北巴西大德州Serrinha dos Pintos市上西部地区的个体进行了该病的初步鉴定。其临床特征包括:先天性和萎缩性视神经萎缩进行性痉挛性截瘫,起病早,轴突神经病变,临床起病在10岁以后,惊声异常,构音障碍,脊柱和足部畸形,锥体外系征象。本文的目的是报告在Serrinha dos Pintos-RN市家庭保健扩大核心(NASF)的物理治疗援助下患有SPOAN的患者的病例。经验报告:这是一份由市政NASF协助的SPOAN综合征患者护理经验报告。全市有14例SPOAN患者,但其中只有4例(28.5%)患者接受了物理治疗。治疗平均持续40-50分钟,其间有适度的休息。包括:被动关节活动练习、肩胛骨和骨盆带解离练习、关节内活动练习、拉伸、肌肉强化、呼吸练习、肌筋膜释放、Kabat方法、Bobath和Pilates、电疗和耳疗。最后注意事项:SPOAN综合征患者的物理治疗护理被认为对这些患者的功能保存极其重要,因为有一个令人满意的临床进展,肌肉力量和柔韧性,关节活动范围和呼吸能力的改善。因此,关于SPOAN的诊断和预后的未来研究是必要的,因为早期适当的治疗干预可以获得最佳的功能结果。