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Research draft

dystonia

vr.tr.dystonia · XCT.STA

Let an agent explain dystonia and its main forms in general terms, relay diagnosis, treatment and support information from neurological and patient organisations, distinguish it from other movement disorders, and route personal questions to clinicians.

Thing Registry Cross-cutting context

Research draft, second pass

A second pass drafted this model: the structure a model of this thing needs, and what is known about it in the world. The line under this one says how the second half was obtained - researched against sources, or recalled without web access, in which case nothing here was read anywhere and every claim is a lead to verify. Unreviewed either way.

written by Claude from model knowledge without web access - no source was read, every claim is a lead to verify

Researched by: Claude

Purpose and description

Let an agent explain dystonia and its main forms in general terms, relay diagnosis, treatment and support information from neurological and patient organisations, distinguish it from other movement disorders, and route personal questions to clinicians.

A movement disorder in which sustained or intermittent involuntary muscle contractions cause twisting, repetitive movements or abnormal postures, affecting one body part, several or the whole body; causes include genetic forms, brain injury, medications and unknown factors, and management includes medicines, botulinum toxin injections and deep brain stimulation.

What it is for: Not applicable; a disorder.

It can be explain forms and causes in general terms; relay treatment options from guidelines; distinguish from tremor, spasticity and tics; route personal questions to clinicians.

Distinguishing features

Patterned, twisting movements and postures

Focal, segmental, multifocal or generalised distribution

Genetic, acquired and idiopathic causes

Sensory tricks that ease the posture

What it looks like

Not visible as an object; seen as twisting movements or sustained abnormal postures, such as a turned neck in cervical dystonia.

Physical character

prevalence: tens per 100000 people - estimates vary by form and study

How it is recognised

Sustained or repetitive involuntary contractions producing postures

Often worsened by voluntary action and eased by sensory tricks

Tremor, tics, spasticity and chorea are other movement disorders

Related models

is a kind of - the category

movement disorder

is confused with - a different movement disorder

tremor

is treated by - a main treatment for focal forms

botulinum toxin

is studied by - the specialty

neurology

In practice

Families and kinds

cervical dystonia or torticollis

blepharospasm and other focal dystonias

task-specific dystonias such as writer cramp and musician dystonia

generalised and genetic dystonias

drug-induced and acquired dystonias

paroxysmal dystonias

Identifiers

ICD-10 G24

ICD-11 8A02

DYT gene loci DYT1 and others genetic forms

Standards and regulation

Neurological society guidelines on classification and treatment

Rare disease frameworks for genetic forms

Medicines regulation for botulinum toxin products

Failure modes and hazards

Misdiagnosis as psychological or as another disorder

Pain, disability and social impact

Side effects of treatments

Agents giving personal medical advice

Also called

torticollisnocturnal paroxysmal dystoniaKISS syndromeGrisel's syndromecongenital torticollisbenign paroxysmal torticollispleurothotonusfibromatosis collidystonia 12X-linked dystonia-parkinsonisminfantile parkinsonism-dystoniaParkinsonism-dystonia 3, childhood-onsetdopamine-responsive dystoniadystonia 5episodic kinesigenic dyskinesia 1myoclonic dystonia 26dystonia 23dystonia 24myoclonic dystonia 11myoclonic dystonia 15torsion dystonia 7dystonia 9paroxysmal nonkinesigenic dyskinesia 1episodic kinesigenic dyskinesia 2childhood onset GLUT1 deficiency syndrome 2myoclonic dystoniaoromandibular dystoniafocal dystoniaacute dystoniageneralized dystoniamultifocal dystoniasegmental dystoniaparoxysmal nonkinesigenic dyskinesia 2childhood dystoniafocal, segmental or multifocal dystoniageneralized isolated dystoniaStatus dystonicusmusician's dystoniacranio-facial dystoniaoculogyric crisis

+1

Where this came from

wikidata · CC0 1.0

Drafted structure

Bundle to layer to finding to question, as the second pass will find it: 4 bundles · 8 layers · 8 findings · 16 questions.

Understand What dystonia is.

General information.

Definition

Definition and forms.

Definition

Definition.

  1. What is dystonia, and how are its forms classified by distribution, age and cause? definition
  2. Is the user asking about their own symptoms, which needs a clinician? boundary

Distinguish

Other disorders.

Distinguish

Distinguish.

  1. How is dystonia distinguished from tremor, tics, spasticity and chorea? definition
  2. Which entry fits another movement disorder? action
Diagnose Assessment.

Assessment is clinical.

Assessment

Clinical assessment.

Assessment

Assessment.

  1. How is dystonia assessed and which investigations are used, in general terms? provenance
  2. Which entry fits genetic testing? action

Measurement

Rating scales.

Measurement

Measurement.

  1. Which rating scales measure severity and impact? measurement
  2. Which references define them? provenance
Treat Treatment and support.

Care.

Treatment

Treatment options.

Treatment

Treatment.

  1. What treatments do guidelines describe, from medicines to injections and surgery? provenance
  2. Is the presentation free of personal treatment advice? boundary

Support

Living with dystonia.

Support

Support.

  1. What support, therapy and patient organisations exist? provenance
  2. Which entry fits disability support? action
Study Causes and research.

Research.

Causes

Mechanisms.

Causes

Causes.

  1. What is known about genetic and brain network causes, with findings attributed? provenance
  2. Which references are standard? provenance

Research

Research.

Research

Research.

  1. What research and trials are under way? provenance
  2. How is dystonia taught to clinicians? action

What the second pass must settle

  • Should each form be a separate entry?
  • How should guidelines and patient organisations be linked?
  • The registry entry has merged aliases for infant conditions that are not dystonia; should they be split off?