神经代谢紊乱中的共济失调。
Ataxia in Neurometabolic Disorders.
作者信息
Kaminiów Konrad, Ryguła Izabella, Paprocka Justyna
机构信息
Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.
Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.
出版信息
Metabolites. 2022 Dec 28;13(1):47. doi: 10.3390/metabo13010047.
Ataxia is a movement disorder that manifests during the execution of purposeful movements. It results from damage to the structures of the cerebellum and its connections or the posterior cords of the spinal cord. It should be noted that, in addition to occurring as part of many diseases, pediatric ataxia is a common symptom in neurometabolic diseases. To date, there are more than 150 inherited metabolic disorders that can manifest as ataxia in children. Neuroimaging studies (magnetic resonance imaging of the head and spinal cord) are essential in the diagnosis of ataxia, and genetic studies are performed when metabolic diseases are suspected. It is important to remember that most of these disorders are progressive if left untreated. Therefore, it is crucial to include neurometabolic disorders in the differential diagnosis of ataxia, so that an early diagnosis can be made. Initiating prompt treatment influences positive neurodevelopmental outcomes.
共济失调是一种在执行有目的运动时出现的运动障碍。它是由小脑及其连接结构或脊髓后索受损引起的。需要注意的是，除了作为许多疾病的一部分出现外，小儿共济失调是神经代谢疾病中的常见症状。迄今为止，有超过150种遗传性代谢障碍可在儿童中表现为共济失调。神经影像学检查（头部和脊髓的磁共振成像）对共济失调的诊断至关重要，当怀疑有代谢疾病时需进行基因研究。重要的是要记住，如果不治疗，这些疾病大多会进展。因此，在共济失调的鉴别诊断中纳入神经代谢障碍至关重要，以便能早期诊断。尽早开始治疗会影响积极的神经发育结果。
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