Treating Ahead of Time: The Impact of Early Diagnosis in Treatable Pediatric Neurotransmitter Disorders

Topic: Treating Ahead of Time: The Impact of Early Diagnosis in Treatable Pediatric Neurotransmitter Disorders
Lecturers: Juhi Gupta (Moderator); Günce Başarır (Speaker); Elif Perihan Öncel (Speaker); Biju Hameed (Expert Faculty)
When: Saturday, 21 June 2025
Time: 09:00 AM Eastern Time ( US/ Canada )

About Topic:

Neurotransmitter disorders related to GCH1 and TH gene mutations represent a distinct group of pediatric movement disorders characterized by disruptions in dopamine biosynthesis. Mutations in the GCH1 gene, encoding GTP cyclohydrolase I, and the TH gene, encoding tyrosine hydroxylase, impair the synthesis of tetrahydrobiopterin (BH4) and dopamine, respectively. These deficiencies can manifest as dopa-responsive dystonia (DRD), early-onset parkinsonism, or complex mixed hyperkinetic-hypokinetic movement disorders, often accompanied by diurnal fluctuation, hypotonia, and oculogyric crises. Although the clinical presentations may overlap with cerebral palsy or genetic dystonias, neurotransmitter disorders are highly treatable when recognized early. CSF neurotransmitter metabolite analysis and targeted gene sequencing are essential diagnostic tools that enable timely intervention with low-dose levodopa therapy. With prompt diagnosis, many affected children experience marked and sustained improvement, highlighting the critical importance of maintaining a high index of suspicion for these conditions in the differential diagnosis of pediatric movement disorders.

Learning objectives:

1. To understand the role of gene mutations in dopamine biosynthesis and their impact on motor control.
2. To identify the key clinical features of dopa-responsive dystonia and related neurotransmitter disorders (e.g., diurnal fluctuation, hypotonia, oculogyric crises).
3. To emphasize the potential for dramatic clinical improvement with early initiation of levodopa therapy in these treatable conditions.