Dystonia

Dystonia is a movement disorder in which sustained or intermittent muscle contractions cause abnormal postures, twisting movements, or both. It can affect one body region or several.

Basal ganglia: A group of interconnected brain structures involved in selecting and regulating movement. Abnormal basal ganglia circuitry is implicated in many forms of dystonia.
Movement disorder: A neurological condition characterized by impaired control of movement. Dystonia is one type of movement disorder, alongside tremor and parkinsonism.
Botulinum toxin: A neurotoxin used in small therapeutic doses to weaken targeted muscles by blocking acetylcholine release. Injections into selected muscles are a main treatment for many focal dystonias.
DYT1 dystonia: An inherited early-onset dystonia commonly associated with pathogenic variants in the TOR1A gene. It is a well-studied example of genetic dystonia.
Spasticity: A velocity-dependent increase in muscle resistance caused by damage to upper motor neuron pathways. Spasticity can resemble dystonia but has a different neurological mechanism and examination pattern.
Sensorimotor integration: The nervous system’s combination of sensory input and motor commands to guide action. Impaired integration may help explain dystonic postures and sensory tricks.
Muscle tone: The resistance of a muscle to passive stretch, shaped by neural and mechanical factors. Dystonia involves abnormal muscle activation, but is not simply increased muscle tone.
Deep brain stimulation: A treatment that uses implanted electrodes to deliver electrical stimulation to selected brain circuits. It can reduce severe dystonia when medication and other treatments are insufficient.
TOR1A: A gene that encodes torsinA, a protein involved in cellular processes including protein handling. TOR1A variants cause many cases of early-onset isolated dystonia.
Essential tremor: A neurological disorder characterized mainly by action tremor, often affecting the hands. It is a frequent alternative diagnosis when tremor accompanies dystonia.

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