Cases Report And Clinical Analysis Of Spinocerebellar Ataxia Type 3

Background: spinocerebellar ataxia(SCA)is a rare disease,which is a single gene neurodegenerative disease with autosomal dominant inheritance.Spinocerebellar ataxia type 3(SCA3)is the most common type of SCA in the world.SCA3 is characterized by complex clinical manifestations,high heterogeneity and gene pleiotropy.Molecular genetic examination is the only standard for definite diagnosis,but it can not be widely used because of its relatively high price.Combined with the lack of clinical understanding of this kind of disease,the misdiagnosis rate of the disease is high.At present,most of the researches on SCA3 patients at home and abroad focus on family pedigree and genetic analysis,while the researches and reports on specific clinical manifestations are relatively few.Objective: To investigate the clinical characteristics of SCA3,analyze the value of imaging,blood biomarkers,neuroelectrophysiological examination in clinical diagnosis,summarize the treatment of SCA3,and provide theoretical basis for the early clinical diagnosis and optimal treatment of SCA3.Methods: the clinical data,imaging,laboratory,genetic test results and treatment process of this case of SCA3 misdiagnosed as cervical spondylosis were retrospectively analyzed.The scale for the assessment and rating of ataxia(SARA)was used to evaluate the symptoms of admission and improvement after treatment.We searched Pub Med,MEDLINE,EMBASE,CNKI,Wanfang,VIP and other databases for literatures from 1995 to 2021,and summarized the research results of SCA3 pathogenesis,diagnosis technology and treatment strategy at home and abroad.Objective to summarize and discuss the early clinical diagnosis and treatment of SCA3.Results: the patient was middle-aged,with chronic course of disease,with weakness of both lower limbs as the first symptom,and gradually developed into weakness of limbs,with progressive aggravation of symptoms.According to the treatment effect of cervical spondylosis,ataxia gradually appeared,and the Sara scale score was 15 on admission.The results of gene detection showed that the number of amplifications of the "CAG" trinucleotide repeats of the two chains was 24 and 74 respectively,which was consistent with the diagnosis of SCA3.After treatment with far-infrared radiation and transcranial magnetic stimulation,the Sara scale score was 13 points,which was improved compared with that before treatment.Conclusion:1.Spinocerebellar ataxia has complex clinical manifestations,which is easy to be misdiagnosed as cervical spondylosis.2.Depression,fatigue and other symptoms are common in SCA3 patients in China,which seriously affect the quality of life of patients,so early diagnosis is particularly important for the treatment of SCA3 and the improvement of prognosis.3.Abnormal imaging and neuroelectrophysiological examination of SCA3 patients may be earlier than the occurrence of clinical symptoms.For patients with non ataxia symptoms such as weakness of both lower limbs,we should focus on improving imaging and neuroelectrophysiological examination,combined with family history,laboratory examination and so on.4.However,transcranial magnetic stimulation(TMS)and far-infrared radiation therapy can improve some clinical manifestations of patients with SCA3.