Movement Disorders and Neurometabolic Diseases
Celanie K Christensen1, Laurence Walsh2
1Department of Neurology, Section of Child Neurology, Indiana University School of Medicine, Indianapolis, IN; Department of Pediatrics, Section of Developmental Pediatrics, Indiana University School of Medicine, Indianapolis, IN.
Seminars in Pediatric Neurology
|May 9, 2018
Summary
Many inherited metabolic diseases (IEM) cause pediatric movement disorders like chorea and dystonia. Early diagnosis and treatment of these neurometabolic conditions can significantly improve outcomes for affected children.
Area of Science:
- Neurology
- Metabolic Disorders
- Pediatrics
Background:
- Inborn errors of metabolism (IEM) are a significant cause of movement disorders in children.
- Pediatric movement disorders encompass conditions such as chorea, dystonia, myoclonus, tremor, and parkinsonism.
Purpose of the Study:
- This review focuses on the spectrum of movement disorders associated with IEM in pediatric populations.
- To highlight the diverse neurometabolic categories implicated in these conditions and their clinical manifestations.
Main Methods:
- Literature review of inherited metabolic diseases and their associated movement disorders.
- Categorization of neurometabolic disorders based on affected pathways (e.g., mitochondrial, organic acidemias, neurotransmitter).
Main Results:
- Common IEM categories include mitochondrial cytopathies, organic acidemias, mineral metabolism disorders, neurotransmitter diseases, purine and lipid metabolism abnormalities, and creatine metabolism dysfunction.
- Multiple IEMs can cause various movement abnormalities, and a single movement disorder can stem from diverse IEMs.
Conclusions:
- Recognition and characterization of IEM-related movement disorders are crucial for effective management and diagnosis in children.
- Targeted therapies, including dietary modifications and medications, offer improved outcomes for children with IEM-induced movement disorders.
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