case_images: PMC11720937_01
case_images: Neurological Examination (Initial Visit, 1-Month and 1-Year Follow up): Initial Visit: The patient is unable to walk and presents with severe resting and postural tremors in both upper limbs, head tremor, and leftward deviation of the head and neck. Fine motor movements in both hands are uncoordinated and significantly slowed. 1-Month and 1-Year Follow up: The patient is able to walk, with significant improvement in head tremor and upper limb tremors. Fine motor coordination and hand speed have also improved. However, the leftward deviation of the head and neck remains pronounced.
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case_images: PMC11720937_01_.jpg
case_images: V1
case_images: No similar symptoms were noted in other family members (Figure 1).
case_images: Pedigree analysis of the GCH1 gene in the family. Pedigree illustrating the inheritance pattern, clinical phenotypes, and genotypes of family members. Circles represent females, and squares represent males. Red-filled segments denote individuals diagnosed with dopa-responsive dystonia (DRD), while blue-filled segments indicate individuals diagnosed with parkinsonism. Individuals with both parkinsonism and DRD are shown with a half-blue, half-red symbol. Open symbols indicate unaffected individuals, and dotted symbols represent asymptomatic carriers of the GCH1 variant. The proband is indicated by an arrow. The question mark (?) beside individual II-3 indicates diagnostic uncertainty due to limited clinical information. Numbers in parentheses denote the age (in years, y) of each individual at the clinical examination. Genotype notation: +/+: Wild-type (no GCH1 variant detected); +/-: Heterozygous for the GCH1 variant. Individuals who were not tested for the variant are not labeled with genotypes.
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case_images: PMC11720937_01_tohm-15-1-974-g1.jpg
case_images: F1
case_images: These mechanisms are likely to reduce BH4 levels and impair dopamine synthesis, potentailly contributing to the disease pathogenesis (Figure 2).