Sng Kim Sia, Sin Yen Suan, Alhawiti Salma Musallam O
Department of Chinese Medicine, School of Alternative and Complementary Medicine, IMU University, Bukit Jalil, Kuala Lumpur, Malaysia.
Graduate School, Heilongjiang University of Chinese Medicine, Harbin, Heilongjiang, China.
Heliyon. 2024 Jun 14;10(12):e33046. doi: 10.1016/j.heliyon.2024.e33046. eCollection 2024 Jun 30.
We present a case study of an 8-year-old girl with autosomal recessive spastic ataxia of Charlevoix-Saguenay, who experienced gait imbalance since the age of two. Magnetic resonance imaging of the brain and whole spine, as well as electroencephalography, revealed no abnormalities. However, genetic testing identified a likely pathogenic variant and an uncertain significance in the heterozygous state of the Sacsin Molecular Chaperone gene. Despite treatment with epileptic and antiparkinsonian medications, along with supplements, no significant improvements were observed. Subsequently, the patient underwent eight sessions of physiotherapy before starting with 14 sessions of combined style scalp acupuncture targeting the motor and chorea-tremor areas with physiotherapy treatment. Positive changes were noted in the Trunk Control Measurement Scale (TCMS) and Pediatric Balance Scale (PBS) after three sessions of combined treatments from 25 to 36 and 21 to 43 respectively. Further combined treatments showed consistent improvements where the TCMS reached a peak of 57 out of 58 and PBS showed a peak of 54 out of 58 at the 6th month of combined treatment. This suggests that the combination of scalp acupuncture with physiotherapy treatment may provide improvement in the balance and gait of patients with ARSACS. More similar cases should be documented to better understand the potential benefits and synergies of both treatments of ARSACS.
我们报告了一例患有常染色体隐性遗传性沙勒沃伊 - 萨格奈痉挛性共济失调的8岁女孩的病例研究,该女孩自两岁起就出现步态失衡。脑部和全脊柱的磁共振成像以及脑电图检查均未发现异常。然而,基因检测在Sacsin分子伴侣基因的杂合状态中发现了一个可能的致病变异和一个意义不明确的变异。尽管使用了抗癫痫和抗帕金森药物以及补充剂进行治疗,但未观察到明显改善。随后,患者在开始针对运动和舞蹈样震颤区域进行14次头皮针联合物理治疗之前,接受了8次物理治疗。在联合治疗的三个疗程后,躯干控制测量量表(TCMS)和儿童平衡量表(PBS)分别从25分提高到36分以及从21分提高到43分,出现了积极变化。进一步的联合治疗显示出持续改善,在联合治疗的第6个月,TCMS达到了58分中的57分峰值,PBS达到了58分中的54分峰值。这表明头皮针与物理治疗相结合可能会改善ARSACS患者的平衡和步态。应该记录更多类似病例,以更好地了解ARSACS这两种治疗方法的潜在益处和协同作用。