Objective: To analyze the prevalence, patterns and severity of movement disorders in children with genetically proven neurometabolic and neurodegenerative diseases.

Background: Movement disorders are often the presenting symptom in children with neurometabolic and neurodegenerative diseases. There is scarcity of data on the prevalence and patterns of movement disorder in these children.

Method: Consecutive children with a confirmed neurometabolic or neurodegenerative disorder were screened for the presence of movement disorder in the Pediatric Neurology clinic. The movements were analyzed prospectively through physical examination, patients’ videos and case records documented in patients’ files and hospital database. Their severity was analyzed on the standard severity scales.

Results: We screened n=62 children with an underlying neurometabolic or neurodegenerative disorder in the past one year. Of these, n=40 children had movement disorder (prevalence 64%). The mean age at presentation was 5.45 years (SD 3.68, range 10 months to 13 years). There was a male preponderance; n=21 (52.5%) were boys and n=19 (47.5%) were girls. The mean age of onset of the first neurological symptom was 2.5 years (SD 2.38). The mean age of onset of movement disorder was 3.09 years (SD 2.48). The most common underlying causes were mitochondrial complex 1 deficiency (n=5), glutaric aciduria type 1 (n=4) and Wilson’s disease (n=4). Generalized dystonia was the most common type of movement disorder (n=28, 70%), followed by ataxia (n=16, 40%), stereotypies (n=4, 10%), tremors (n=1, 2.5%) and myoclonus (n=1, 2.5%). The majority had a single type of movement disorders, however, n=9 children (22.5%) had more than one type of movement disorder.

Conclusion: Neurometabolic and neurodegenerative disorders are an important cause of secondary movement disorders in children. Movement disorders are seen in upto 64% of these cases. Dystonia and ataxia are the most common type and nearly one-fifth have a mixed movement disorder.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/movement-disorders-in-children-with-neurometabolic-and-neurodegenerative-disorders-a-single-center-prospective-study/