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 assume 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 sick people for 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

Currently, dystonia occurs 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 are adults
Children between the ages of 6 and 10 are most at risk of generalized dystonia
S "is one of the most common movement disorders, after Parkinson's disease and tremor.

Dystonia: target Ideally, dystonia could affect men, women and children of all ages and populations indiscriminately

In man: legs and arms are the sites most affected by dystonia
Minimal female prevalence in some dystonic forms

Dystonia: general characteristics

Chronic pathology that only rarely affects the cognition of the affected patient
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 rating scale
Dystonic muscle contractions protracted over time
Twisting movements comparable to the movement of the snake
Frequency and cadenced repetition of abnormal involuntary muscle contractions: elements that all forms of dystonia have in common

Action dystonia During a simple action, such as writing, the patient suffering from dystonia could present further bizarre atypical movements, worsened by the implementation of voluntary "antagonistic" movements Dystonia: age of onset

Early-onset dystonia (infantile-adolescent): most often appears at 9 years of age and mainly affects one limb
Late-onset dystonia: usually appears in adulthood, after the age of 30, particularly between the ages of 40 and 60

General classification of dystonia Dystonias are classified according to:

Location: based on the involvement of the various anatomical sites affected by dystonia (focal dystonia)
Age of onset of the disorder (generalized dystonias)
Triggering cause (secondary dystonia)

Generalized dystonia

Childhood dystonia
Paroxysmal dystonia

Secondary dystonia

Idiopathic dystonia
Symptomatic dystonia
Iatrogenic dystonia

Focal dystonia Description: anomalous movements are prolonged over time, arrhythmic, up to degenerate causing real fixed and immobile positions Classification:

Upper limb dystonia (eg. Scribe's cramp, Musicians' dystonia): focal dystonia related to particular activities (eg playing, writing). Botulinum toxin represents the therapeutic option of excellence to remedy this focal dystonia
Blepharospasm: the disease affects the face, especially 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 muscles. It is the most frequent focal form
Laryngeal dystonia: Laryngeal stridor, Adductor spasmodic dysphonia, Abductor dysphonia
Hemidistonia

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 (genetic-familial and sporadic forms)
Primary paroxysmal dystonia (genetic-familial and sporadic forms)
Kinesigenic choreoathetotic paroxysmal dystonia
Hypnogenic paroxysmal dystonia
Paroxysmal ataxia responsive to acetazolamide
Paroxysmal choreoathetotic dystonia
Familial periodic ataxia

Therapies: mild dystonia: some homeopathic or neuropathic remedies. It is the task of the specialist to prescribe the most suitable therapy for the dystonic-paroxysmal patient Dystonia: causes

Often the causes related to the manifestation of dystonia are not identifiable
Trauma
Taking particular pharmacological substances for long periods (antipsychotics-neuroleptics)
Mutation of some genes (eg. DYT1)
Nervous system disorders (stroke, tumors, multiple sclerosis, head trauma, bacterial infections, neonatal brain damage, etc.)
Hereditary diseases affecting certain areas of the nervous system (heredodegenerative diseases)

Dystonia: diagnosis Doctors do not have a single and standard diagnostic test to confirm the hypothesis of dystonia;

Clinical evaluation of the patient
Know the patient's history
Laboratory investigations (e.g. urinalysis, blood and cerebrospinal fluid analysis)
Brain MRI (Brain Magnetic Resonance)
CT ("diagnostic imaging")
Neuroimaging
Electromyographic investigation of muscle activity (EMG)
Molecular Genetics 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 "age of onset" of dystonia is fundamental to hypothesize an evolutionary prognosis of the kinetic disorder

Onset of dystonia at an early age: greater chance of disease degeneration
Onset of dystonia in adulthood: greater possibility of stabilization of dystonic symptoms