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Updated: Mar 20, 2026

Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia
Published on: January 27, 2018
Delayed Diagnosis of Dopa responsive Dystonia in Two Siblings
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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