RESUMO
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 Jiao's 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.
