Delayed Diagnosis of Dopa responsive Dystonia in Two Siblings
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Updated: Mar 20, 2026

Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia
Published on: January 27, 2018
Rahul Jain1, Bhaskar Shukla, Medha Mittal
1Department of Pediatrics, Chacha Nehru Bal Chikitsalaya, Geeta Colony, Delhi, India. Correspondence to: Dr Rahul Jain, 61 A, DDA Flats, Phase 1, Qutab Enclave, New Delhi 110 016, India. drrahuljain1980@gmail.com.
Background:
Dopa responsive dystonia is characterized by progressive disabling dystonia, diurnal variation and a dramatic response to Levodopa.
Case Characteristics:
Two siblings presented with regression of motor milestones and hypertonia in lower limbs. History of diurnal variation was present in elder sibling.
Outcome:
Both responded dramatically to Levodopa. The genomic DNA analysis of elder sibling revealed a novel mutation.
Message:
A trial of Levodopa should be considered in a child with motor regression with diurnal variation, in the presence of extrapyramidal features.
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