dystona

Dystona, closely related to the term dystonia in many languages, refers to a neurological movement disorder defined by sustained or intermittent muscle contractions. These contractions can cause twisting, abnormal postures, or repetitive movements that may be worsened by action, stress, or attempts to move.

Dystonia is classified by the body regions affected and by the pattern of involvement. Focal dystonias affect a single body part (such as the neck in cervical dystonia, the eyelids in blepharospasm, or the hand in writer’s cramp). Segmental dystonia involves two or more adjacent regions, generalized dystonia affects multiple body parts, and multifocal dystonia involves unrelated regions. Some forms are task-specific, emerging only during particular activities. Genetic (primary) forms include mutations such as TOR1A (DYT1) and THAP1 (DYT6), while other cases are acquired (secondary) due to brain injury, stroke, metabolic disorders, Wilson’s disease, or drugs that block dopamine receptors.

Symptoms vary but often include sustained abnormal postures, twisting movements, muscle cramping, and pain. Dystonia can interfere with daily activities and quality of life, and non-motor features like anxiety or depression may accompany it.

Diagnosis is clinical, based on history and examination, with imaging or genetic testing used to exclude other conditions or confirm a genetic form. Treatments aim to reduce symptoms and improve function. Options include botulinum toxin injections for focal areas, oral medications such as anticholinergics or baclofen, and physical therapy. Deep brain stimulation may help in severe, refractory cases. The prognosis is variable; many individuals respond to treatment, but dystonia often remains a chronic condition requiring multidisciplinary care.