Publications by authors named "H A Jinnah"

Deep brain stimulation is an efficacious treatment for dystonia. While the internal pallidum serves as the primary target, recently, stimulation of the subthalamic nucleus (STN) has been investigated. However, optimal targeting within this structure and its surroundings have not been studied in depth.

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Introduction: Idiopathic blepharospasm is a clinically heterogeneous form of focal dystonia, also associated with psychiatric symptoms. The identification of the most relevant sets of motor and psychiatric manifestations may help better understand the specific phenomenology of the condition and delineate blepharospasm subtypes more accurately.

Methods: Patients with idiopathic blepharospasm were from the Dystonia Coalition project.

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Tremor is defined as an oscillatory and rhythmical movement. By contrast, dystonia is defined by sustained or intermittent abnormal postures, repetitive movements, or both. Tremor and dystonia often coexist in the same individual.

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Article Synopsis
  • Dystonia is a common movement disorder with a complex genetic background, showing significant variability in its clinical presentation and genetics.
  • The study involved exome sequencing of nearly 1,924 patients, mainly from two major registries, focusing on those with genetic prescreening negative results and early age at onset.
  • Researchers discovered 137 likely pathogenic variants in 51 genes among the patients, with many being novel, highlighting the challenges in diagnosing and understanding the disorder's genetic links.
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Introduction: Dystonia manifests as slow twisting movements (pure dystonia) or repetitive, jerky motions (jerky dystonia). Dystonia can coexist with myoclonus (myoclonus dystonia) or tremor (tremor dystonia). Each of these presentations can have distinct etiology, can involve discrete sensorimotor networks, and may have characteristic neurophysiological signature.

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