Abstract

"DECODING DYSTONIA: INSIGHTS INTO CLASSIFICATION, DIAGNOSIS, AND MANAGEMENT”

Dr. Ayushi Rai* and Dr. Tabish Nisar

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Abstract

Dystonia is a movement disorder characterized by persistent or sporadic muscular spasms causing abnormal postures, motions, or both. It can start at any time during life, with children experiencing difficulty holding a pencil and writing properly, while adults may experience neck or facial muscle issues. The condition is often misdiagnosed and can be challenging to treat. The most recent classification, proposed in 2013, distinguishes two primary axes: the clinical feature of AXIS 1 and the etiology of AXIS 2. Diagnosis is difficult due to the variety of clinical presentations, and diagnostic criteria vary based on age, developmental delay, family history, and movement abnormalities. Diagnostic methods include magnetic resonance imaging, genetic testing, copper investigations, and electromyogram mapping. Treatment is multilayered, including antidystonic therapies, physiotherapy, additional anti-dystonic therapy, adjuvant medications, relaxation techniques, and providing adequate information.

Keywords: Dopa-responsive dystonia (DRD), Diagnostic exome sequencing (DES), botulinum toxin (BT), Cervical dystonia (CD), Deep brain stimulation (DBS)7