BACKGROUND Adrenoleukodystrophy(ALD)is caused by a deficit in the ABCD1 gene,which leads to demyelination of neurons and dysfunction of the adrenal cortices and testicles.Of the three known phenotypes,30%-50%of male A...BACKGROUND Adrenoleukodystrophy(ALD)is caused by a deficit in the ABCD1 gene,which leads to demyelination of neurons and dysfunction of the adrenal cortices and testicles.Of the three known phenotypes,30%-50%of male ALD patients present with the adrenomyeloneuropathy phenotype,characterized by gait disturbance as the initial symptom.CASE SUMMARY A 46-year-old man with a prior diagnosis of ALD was admitted to a Korean medicine hospital for the treatment of gait disturbance.His ability to walk was severely impaired at admission,significantly affecting the patient’s quality of life.He was treated with acupuncture,pharmacopuncture,electroacupuncture,and herbal medicine for 23 d.The 25-Foot Walk test(25FW),timed up and go(TUG),comfortable gait speed(CGS),numeric rating scale(NRS),Berg Balance Scale(BBS),Tinetti test,manual muscle test(MMT),and 3-level version of EuroQol-5 dimension(EQ-5D-3L)were used to evaluate the patient.The outcomes of the 25FW,TUG,and CGS improved during hospitalization.From the time of admission to discharge we observed:A decrease in NRS scores in the lower extremities and the lower back;an increase of 3 points in the BBS;a 1-point increase in the balancing part of the Tinetti Test;MMT and EQ-5D-3L performances remained unchanged.CONCLUSION Traditional Chinese medicine treatments could be a therapeutic option to alleviate issues related to gait disturbance in ALD.展开更多
基金Supported by a grant from the Korea Health Technology R&D Project through the Korea Health Industry Development Institute(KHIDI)(funded by the Ministry of Health&Welfare of the Republic of Korea),No.HI20C1405.
文摘BACKGROUND Adrenoleukodystrophy(ALD)is caused by a deficit in the ABCD1 gene,which leads to demyelination of neurons and dysfunction of the adrenal cortices and testicles.Of the three known phenotypes,30%-50%of male ALD patients present with the adrenomyeloneuropathy phenotype,characterized by gait disturbance as the initial symptom.CASE SUMMARY A 46-year-old man with a prior diagnosis of ALD was admitted to a Korean medicine hospital for the treatment of gait disturbance.His ability to walk was severely impaired at admission,significantly affecting the patient’s quality of life.He was treated with acupuncture,pharmacopuncture,electroacupuncture,and herbal medicine for 23 d.The 25-Foot Walk test(25FW),timed up and go(TUG),comfortable gait speed(CGS),numeric rating scale(NRS),Berg Balance Scale(BBS),Tinetti test,manual muscle test(MMT),and 3-level version of EuroQol-5 dimension(EQ-5D-3L)were used to evaluate the patient.The outcomes of the 25FW,TUG,and CGS improved during hospitalization.From the time of admission to discharge we observed:A decrease in NRS scores in the lower extremities and the lower back;an increase of 3 points in the BBS;a 1-point increase in the balancing part of the Tinetti Test;MMT and EQ-5D-3L performances remained unchanged.CONCLUSION Traditional Chinese medicine treatments could be a therapeutic option to alleviate issues related to gait disturbance in ALD.