Understanding Hyperkinetic Dystonia
Hyperkinetic dystonia is an involuntary (not controlled by the individual) movement disorder. It can present by itself or in combination with other movement disorders such as chorea, myoclonus, tremor, and parkinsonism. The cause of most forms of hyperkinetic dystonia is mostly unknown. Multiple brain areas may be involved.
Symptoms of Hyperkinetic Dystonia
Hyperkinetic dystonia is characterized by sustained or repetitious muscular contractions, often producing abnormal posture. Movements typically are twisting, follow a pattern, and may be shaking. The way hyperkinetic dystonia presents varies widely, from a contraction of a single muscle group to a disabling abnormality of multiple groups. Commonly, dystonia starts by a voluntary motion but may later become sustained and extend to other body regions. Stress or fatigue commonly worsens dystonia and relaxation or sensory stimulation often reduces it.
Early-onset dystonia occurring by itself presents in childhood or young adulthood. It most often begins with symptoms in the limbs, typically the leg, often as the foot rotated inward. It spreads to other body areas and often become more widespread. Hyperkinetic dystonia may present as an adult and affect one area (adult-onset focal), commonly the neck, eyelids or task-specific muscle groups (happens only with certain tasks like writing, typing, running, or playing a musical instrument).
Diagnosing Hyperkinetic Dystonia
Hyperkinetic dystonia may be genetic, caused by another condition or occur spontaneously for an unknown reason. Overall hyperkinetic dystonia diagnosis and classification is challenging and diagnosis relies mainly on clinical evaluation.
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di Biase, L, Di Santo, A, Caminiti M, Pecoraro, P, Di Lazzaro, V. Classification of Dystonia. Life 2022, 12, 206. https://doi.org/10.3390/life12020206
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