Clinical and biochemical footprints of inherited metabolic diseases: Ia. Movement disorders, updated
Movement disorders are a common manifestation of inherited metabolic diseases (IMDs), categorized into hyperkinetic movement disorders, hypokinetic-rigid syndromes, ataxia, and spasticity. We reviewed and updated the list of known metabolic disorders associated with movement disorders, identifying a...
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| Main Authors: | , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
May 2025
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| In: |
Molecular genetics and metabolism reports
Year: 2025, Volume: 145, Issue: 1, Pages: 1-12 |
| ISSN: | 2214-4269 |
| DOI: | 10.1016/j.ymgme.2025.109084 |
| Online Access: | Verlag, kostenfrei, Volltext: https://doi.org/10.1016/j.ymgme.2025.109084 Verlag, kostenfrei, Volltext: https://www.sciencedirect.com/science/article/pii/S1096719225000757 
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| Author Notes: | Dakota J. S. J. Peacock, Carlos R. Ferreira, Gabriella Horvath, Georg F. Hoffmann, Nenad Blau, Darius Ebrahimi-Fakhari |
| Summary: | Movement disorders are a common manifestation of inherited metabolic diseases (IMDs), categorized into hyperkinetic movement disorders, hypokinetic-rigid syndromes, ataxia, and spasticity. We reviewed and updated the list of known metabolic disorders associated with movement disorders, identifying a total of 559 IMDs. We outlined the more common and treatable causes, sorted by the dominant movement disorder phenomenology, and provided a practical clinical approach for suspected IMDs presenting with movement disorders. This work represents an updated catalog in a series of articles aimed at creating and maintaining a comprehensive list of clinical and metabolic differential diagnoses based on system involvement. |
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| Item Description: | Gesehen am 05.11.2025 |
| Physical Description: | Online Resource |
| ISSN: | 2214-4269 |
| DOI: | 10.1016/j.ymgme.2025.109084 |