BACKGROUND Spinocerebellar ataxia type 3(SCA3)is a rare neurodegenerative disease with high genetic heterogeneity.SCA3 mainly manifests as progressive cerebellar ataxia accompanied by paralysis of extraocular muscles,...BACKGROUND Spinocerebellar ataxia type 3(SCA3)is a rare neurodegenerative disease with high genetic heterogeneity.SCA3 mainly manifests as progressive cerebellar ataxia accompanied by paralysis of extraocular muscles,dysphagia,lingual fibrillation,pyramidal tract sign,and extrapyramidal system sign.However,it rarely has clinical manifestations similar to Parkinson-like symptoms,and is even rarer in patients sensitive to dopamine.We report a patient initially diagnosed with dopamine-responsive dystonia who was ultimately diagnosed with SCA3 by genetic testing,which was completely different from the initial diagnosis.CASE SUMMARY A 40-year-old Chinese woman was admitted to hospital due to severe inflexibility.At the beginning of the disease,she presented with anxiety and sleep disorder.At the later stage,she presented with gait disorder,which was similar to Parkinson's disease.Her medical history was unremarkable,but her mother,grandmother,and uncle all had similar illnesses and died due to inability to take care of themselves and related complications.Laboratory and imaging examinations showed no abnormalities,but electromyography and electroencephalography revealed delayed somatosensory evoked potentials and slow background rhythm,respectively.Her symptoms fluctuated during the daytime,and we initially diagnosed her with dopamine-responsive dystonia.After treatment with lowdose levodopa,the patient’s symptoms were significantly improved,but the final genetic diagnosis was SCA3.CONCLUSION SCA3 has various clinical phenotypes and needs to be differentiated from Parkinson's syndrome and dopamine-responsive dystonia.展开更多
The theory of the TCM laxative method is rich in content.Doctors of past dynasties have used it to treat febrile diseases.And the theory of“Laxative method used in early stage of Febrile Disease”has been praised by ...The theory of the TCM laxative method is rich in content.Doctors of past dynasties have used it to treat febrile diseases.And the theory of“Laxative method used in early stage of Febrile Disease”has been praised by later generations.It advocates chasing away evil influence early and paying attention to the laxative method to prevent the spread of disease.the Novel Coronavirus(COVID-19)Infectious Pneumonia belongs to the category of"epidemic"in traditional Chinese medicine.The reasonable application of the cathartic is an important way to provide a way out for evil.However,don’t be blind to use laxative method,you should get it at the right time.The treatment of COVID-19 has different solution at different stages.You should adapt to the changes of the disease to use cathartic.A case in here is attached for reference.展开更多
基金the National Natural Science Foundation of China,No.81874448 and No.81973789.
文摘BACKGROUND Spinocerebellar ataxia type 3(SCA3)is a rare neurodegenerative disease with high genetic heterogeneity.SCA3 mainly manifests as progressive cerebellar ataxia accompanied by paralysis of extraocular muscles,dysphagia,lingual fibrillation,pyramidal tract sign,and extrapyramidal system sign.However,it rarely has clinical manifestations similar to Parkinson-like symptoms,and is even rarer in patients sensitive to dopamine.We report a patient initially diagnosed with dopamine-responsive dystonia who was ultimately diagnosed with SCA3 by genetic testing,which was completely different from the initial diagnosis.CASE SUMMARY A 40-year-old Chinese woman was admitted to hospital due to severe inflexibility.At the beginning of the disease,she presented with anxiety and sleep disorder.At the later stage,she presented with gait disorder,which was similar to Parkinson's disease.Her medical history was unremarkable,but her mother,grandmother,and uncle all had similar illnesses and died due to inability to take care of themselves and related complications.Laboratory and imaging examinations showed no abnormalities,but electromyography and electroencephalography revealed delayed somatosensory evoked potentials and slow background rhythm,respectively.Her symptoms fluctuated during the daytime,and we initially diagnosed her with dopamine-responsive dystonia.After treatment with lowdose levodopa,the patient’s symptoms were significantly improved,but the final genetic diagnosis was SCA3.CONCLUSION SCA3 has various clinical phenotypes and needs to be differentiated from Parkinson's syndrome and dopamine-responsive dystonia.
基金Beijing University of Chinese Medicine basic scientific research operating expenses project COVID-19 prevention and control emergency special project(No.2020-JYB-YJ-001)Construction project of Traditional Chinese medicine Academic Schools Inheritance Studio of State Administration of Traditional Chinese Medicine(No.LPGZS 201201)National Administration of Traditional Chinese Medicine national famous old Chinese medicine experts studio construction project(No.1000062620114/002)。
文摘The theory of the TCM laxative method is rich in content.Doctors of past dynasties have used it to treat febrile diseases.And the theory of“Laxative method used in early stage of Febrile Disease”has been praised by later generations.It advocates chasing away evil influence early and paying attention to the laxative method to prevent the spread of disease.the Novel Coronavirus(COVID-19)Infectious Pneumonia belongs to the category of"epidemic"in traditional Chinese medicine.The reasonable application of the cathartic is an important way to provide a way out for evil.However,don’t be blind to use laxative method,you should get it at the right time.The treatment of COVID-19 has different solution at different stages.You should adapt to the changes of the disease to use cathartic.A case in here is attached for reference.