Clinical characteristics and comprehensive rehabilitation of late onset methylmalonic acidemia
10.3969/j.issn.1001-1242.2023.12.008
- VernacularTitle:晚发型甲基丙二酸血症临床特征与综合康复治疗
- Author:
Yanyan LI
1
;
Xin LI
;
Xuan ZHOU
Author Information
1. 上海交通大学医学院附属新华医院康复医学科,上海市,200092
- Keywords:
late-onset methylmalonic acidemia;
clinical characteristics;
MMACHC gene;
rehabilitation
- From:
Chinese Journal of Rehabilitation Medicine
2023;38(12):1683-1688
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical characteristics and the effectiveness of comprehensive rehabilitation thera-py in patients with late-onset methylmalonic acidemia(MMA). Method:A retrospective analysis was conducted on clinical data of 8 patients with late-onset MMA,including the main symptoms,physical signs,auxiliary examinations,and comprehensive rehabilitation therapy.Compre-hensive rehabilitation therapy consisted of medication and rehabilitation interventions.Medication included,meth-ylcobalamin,betaine,and L-carnitine,while rehabilitation interventions focused on lower limb muscle strength training,balance training,and gait training.Manual muscle testing,Holden walking function classification,and SF-36 quality of life scores were collected from 6 patients before and after comprehensive rehabilitation therapy,and the Wilcoxon signed-rank test was used for pre-and post-treatment analysis. Result:Among the 8 patients,1 was asymptomatic,while the remaining 7 exhibited initial symptoms such as neuropsychiatric abnormality including dull reaction,memory loss,and mental apathy,as well as motor impair-ments including unstable gait.Multiple systemic impairments such as joint pain,anemia,and thrombosis were also observed.The most prominent finding on cranial MRI in 6 patients was cerebral atrophy,while l patient showed abnormal signal in the cerebellum on cranial MRI.The two most common mutations in the MMACHC gene were c.482G＞A and c.394C＞T.After 12 weeks of treatment,the patients exhibited disappear-ance of psychiatric symptoms,improvement in lower limb muscle strength,Holden walking function classifica-tion,and SF-36 scores,with statistically significant differences(P＜0.05). Conclusion:Late-onset MMA demonstrates high clinical heterogeneity.For patients presenting with motor im-pairments and psychiatric abnormalities,the possibility of this metabolic disorder should be considered.Compre-hensive rehabilitation therapy can significantly ameliorate psychiatric and behavior symptoms,muscle strength,walking function,and health-related quality of life in late-onset MMA patients.
