health of the nervous system

Dystonia in brief: Summary on Dystonia

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Dystonia Listed among the movement disorders known as dyskinesias, dystonia causes involuntary muscle contractions and spasms, which force the affected subject to take abnormal physical postures unusual movements
Characteristics of movements

dystonic

Abnormal physical postures

Uncomfortable and twisted postures

Unusual movements, often painful and repetitive

Reversibility of the dystonic position: not always possible immediately

Dystonia: incidence 1988: first epidemiological study

300 patients every million healthy subjects; After some years

  • 110 patients per million (of healthy subjects) in England
  • 60 dystonic per million (of healthy subjects) in Japan
Dystonia is present in 370 subjects per million healthy subjects:
  • USA: 300, 000 people affected by dystonia
  • Italy 20, 000 dystonic patients
  • The target of focal dystonic forms is adults
  • Children between the ages of 6 and 10 are at greater risk of generalized dystonia
  • It is one of the most common movement disorders, after Parkinson's disease and tremor.
Diatonia: target Ideally, dystonia could affect men, women and children of all ages and all races without distinction
  • In humans: legs and arms are the most affected by dystonia
  • Minimum female prevalence in some dystonic forms
Dystonia: general characteristics
  • Chronic pathology that only rarely affects the patient's cognition
  • Unlikely decrease in life expectancy
  • Dystonia does not identify terminal pathologies
  • Impairment of the patient's quality of life
  • Different degrees of pain and disability, characteristics classified on an ideal scale of evaluation
  • Dystonic muscular contractions that last over time
  • Torsional movements comparable to the movement of the snake
  • Frequency and repetition of the anomalous involuntary muscle contractions: elements that are common to all forms of dystonia
Action dystonia During a simple action, such as writing, the patient suffering from dystonia could present further bizarre atypical movements, worsened by the putting into practice of voluntary "antagonistic" movements
Dystonia: age of onset
  • Early onset dystonia (infantile-adolescent): most often appears at 9 years of age and mainly affects a limb
  • Late-onset dystonia: generally appears in adulthood, after 30 years, in particular between 40 and 60
General classification of dystonias Dystonias are cataloged according to:
  • Localization: based on the interest of the various anatomical sites affected by dystonia (focal dystonias)
  • Age of onset of the disorder (generalized dystonias)
  • Causative cause (secondary dystonia)
Generalized dystonia
  • Childhood dystonia
  • Paroxysmal dystonia
Secondary dystonia
  • Idiopathic dystonias
  • Symptomatic dystonias
  • Iatrogenic dystonia
Focal dystonia Description: the anomalous movements are prolonged in time, arrhythmic, up to degenerate causing real fixed and immobile positions Classification:
  • Dystonia of the upper limb (eg. Cramp of the scribe, dystonia of the musicians): focal dystonias related to particular activities (eg playing, writing). Botulinum toxin is the excellent therapeutic option to remedy this focal dystonia
  • Blepharospasm: the disease affects the face, in particular the upper part. It is characterized by muscle contractions and spasms that mainly involve the eyelids
  • Cervical dystonia (or spasmodic torticollis): characterized by evident involuntary spasms in the neck musculature. It is the most frequent focal shape
  • Laryngeal dystonia: Laryngeal stridor, Spasmodic dysphonia adductory, Dysphonia abductory
  • hemidystonia
Neurovegetative-paroxysmal dystonia Description: muscle contractions and involuntary spasms of the extrapyramidal system, associated with severe migraine and sudden seizures.

Incidence: rather rare pathology

Classification:

  • Symptomatic paroxysmal dystonia (familial and sporadic genetic forms)
  • Primitive paroxysmal dystonia (familial and sporadic genetic forms)
  • Paroxysmal choreoetetic kinesigenic dystonia
  • Paroxysmal hypnogenic dystonia
  • Paroxysmal ataxia responding to acetazolamide
  • Choreoatetotic paroxysmal dystonia
  • Family periodic ataxia
Therapies: mild dystonia: some homeopathic or neuropathic remedies. It is the specialist's duty to prescribe the most suitable therapy for the dystonic-paroxysmal patient
Dystonia: causes
  • Often the causes related to the manifestation of dystonia are not detectable
  • traumas
  • Intake of particular pharmacological substances for long periods (antipsychotics-neuroleptics)
  • Mutation of some genes (eg DYT1)
  • Nervous system disorders (stroke, tumors, multiple sclerosis, head injury, bacterial infections, neonatal brain damage, etc.)
  • Hereditary diseases affecting some areas of the nervous system (heredegenerative diseases)
Dystonia: diagnosis Doctors do not have a single standard diagnostic test to confirm the dystonia hypothesis;
  • Clinical evaluation of the patient
  • Know the patient's history
  • Laboratory investigations (eg analysis of urine, blood and cerebrospinal fluid)
  • Brain MRI (Brain Magnetic Resonance)
  • TC ("image diagnosis")
  • Neuroimaging
  • Electromyographic investigation of muscle activity (EMG)
  • Molecular genetic diagnostic test
Dystonia: therapies
  • Oral administration of targeted pharmacological specialties
  • Intrathecal administration of muscle relaxants
  • Botulinum toxin injections
  • Surgical therapy
  • Neurosurgery intervention
  • Non-pharmacological therapies
  • Psychological support therapy
  • Limb cast
  • Physical therapy
  • Complementary therapy (acupuncture, yoga, meditation, pilates)
Dystonia: prognosis The onset age of dystonia is fundamental to hypothesize an evolutionary prognosis of kinetic disorder
  1. Onset dystonia at an early age: greater probability of degeneration of the disease
  2. Onset dystonia in adulthood: greater possibility of stabilization of dystonic symptoms