A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.

ABSTRACT: Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and hypokinetic (rigid-akinetic syndrome) movement disorders. The diagnosis of these diseases is in many cases difficult, because the same movement disorder can be caused by several diseases. Through a literature review, two hundred and thirty one inborn errors of metabolism presenting with movement disorders have been identified. Fifty-one percent of these diseases exhibits two or more movement disorders, of which ataxia and dystonia are the most frequent. Taking into account the wide range of these disorders, a methodical evaluation system needs to be stablished. This work proposes a six-step diagnostic algorithm for the identification

SUBMITTER: Ortigoza-Escobar JD 

PROVIDER: S-EPMC7691570 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature