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Dystonia

Dystonia is an abnormal involuntary muscle contraction, which forces body parts to abnormal postures (sometimes painful). It is thought to occur due to disorganization in certain areas of brain (e.g., Basal ganglia) that is responsible for normal body movements. In this disorder, abnormal signals are sent from the brain to the muscles, which cause simultaneous contractions of several muscles. When this happens it leads to abnormal and sometimes painful posturing of body parts. it can present itself in various ways. Based upon the body part affected they are defined into various types. These include Cervical dystonia (Involvement of the neck), Blepharospasm (Increased blinking of the eyes), Hemifacial spasm (contraction of one side of the face), writers cramp (abnormal contraction of hand while writing), hemi or Generalized dystonia, oromandibular dystonia and dystonic tremors to name a few. Dopa responsive Dystonia (DRD) is a type of genetic disorder which if recognized properly gives a dramatic clinical improvement with minimal oral medications.

Most common cause is Idiopathic or Genetic reasons. However it is also caused by Stroke, brain infection, brain trauma, poisoning, hypoxia, jaundice, and side effects of various drugs.

Dystonia affects one’s life from almost no problems to significant disabilities. It can limit person’s social life by social embarrassment, anxiety, depression or can cause ‘functional vision loss’ due to excessive eye blinking, can affect driving abilities or could affect specific tasks (like writing) or all activities of daily living which include, eating, hygiene, speaking, swallowing, and walking /balance. Pain also affects day-to-day works and hence reducing work output.

Dystonia can be treated with various drugs. Currently the most effective way of managing is utilization of botulinum toxin (commonly recognized by the name BOTOX) to reduce undue muscle activity. Botulinum toxin injections is the current first line of treatment in these disorders. Botulinum toxin injections give significant symptomatic benefits for patients. Surgical options are available to the patients who are not effectively responding to medications/botulinum toxin therapy. The current standard of surgical therapy is Deep Brain Stimulation (also well known as DBS), which has changed the management approach in severely disabled dystonic patients. In addition to DBS other surgical therapies are also avaialble based upon clinical status of the patient.