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Review
. 2019 May;127(1):28-30.
doi: 10.1016/j.ymgme.2019.03.007. Epub 2019 Mar 26.

Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders

Carlos R Ferreira  1 , Georg F Hoffmann  2 , Nenad Blau  3
Affiliations
Review

Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders

Carlos R Ferreira et al. Mol Genet Metab. 2019 May.

Abstract

About a third of patients with inherited metabolic diseases with neurologic involvement suffer from a movement disorder, in the form of ataxia, hyperkinetic movements, or hypokinetic-rigid syndrome. We reviewed and updated the list of known metabolic etiologies associated with various types of movement disorders, and found approximately 200 relevant inborn errors of metabolism. This represents the first of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.

Keywords: Ataxia; Choreoathetosis; Dystonia; Hypokinetic-rigid syndrome; Inborn errors of metabolism; Inherited metabolic diseases; Movement disorders; Myoclonus; Parkinsonism; Tremor.

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Conflict of interest statement

Declarations of interest: none

Figures

Figure 1.
Figure 1.
Occurrence (%) of symptoms associated with movement disorders in nine categories of IEMs. The percentages for each movement disorder were calculated using as the denominator the total number of IEMs in each category presenting with any movement disorder. Heat scale ranges from red (0%) for diseases with no particular symptoms reported to violet (100%) for diseases with particular symptoms being highly characteristic. HRS: hypokinetic-rigid syndrome.
See this image and copyright information in PMC

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