Ataxia in Neurometabolic Disorders
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 a...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-12-01
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| Series: | Metabolites |
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| Online Access: | https://www.mdpi.com/2218-1989/13/1/47 |
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| author | Konrad Kaminiów Izabella Ryguła Justyna Paprocka |
| author_facet | Konrad Kaminiów Izabella Ryguła Justyna Paprocka |
| author_sort | Konrad Kaminiów |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-09T11:43:50Z |
| format | Article |
| id | doaj.art-ba6868c938f84e5f9fc13af644372570 |
| institution | Directory Open Access Journal |
| issn | 2218-1989 |
| language | English |
| last_indexed | 2024-03-09T11:43:50Z |
| publishDate | 2022-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Metabolites |
| spelling | doaj.art-ba6868c938f84e5f9fc13af6443725702023-11-30T23:28:05ZengMDPI AGMetabolites2218-19892022-12-011314710.3390/metabo13010047Ataxia in Neurometabolic DisordersKonrad Kaminiów0Izabella Ryguła1Justyna Paprocka2Students’ Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, PolandStudents’ Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, PolandDepartment of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, PolandAtaxia 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.https://www.mdpi.com/2218-1989/13/1/47ataxianeurometabolic disordersneurometabolismmovement disorders |
| spellingShingle | Konrad Kaminiów Izabella Ryguła Justyna Paprocka Ataxia in Neurometabolic Disorders Metabolites ataxia neurometabolic disorders neurometabolism movement disorders |
| title | Ataxia in Neurometabolic Disorders |
| title_full | Ataxia in Neurometabolic Disorders |
| title_fullStr | Ataxia in Neurometabolic Disorders |
| title_full_unstemmed | Ataxia in Neurometabolic Disorders |
| title_short | Ataxia in Neurometabolic Disorders |
| title_sort | ataxia in neurometabolic disorders |
| topic | ataxia neurometabolic disorders neurometabolism movement disorders |
| url | https://www.mdpi.com/2218-1989/13/1/47 |
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