DYSTONIA

Presented by: Ayesha Nasir Hameed

 What is dystonia?

Dystonia is a movement disorder causing involuntary and

uncontrollable contractions of the muscles, causing the affected
body part to twist involuntarily, resulting in repetitive
movements or abnormal postures.
 Background

Dystonia affects about 1% of the population, and women are

more prone to it than men.
It is the third most common movement disorder behind essential
tremor and Parkinson’s disease.
Affects approximately 220 per million people worldwide.
DYSTONIA VS DYSKINESIA

Dyskinesia: This word comes from Greek. “Kinesia” which means

“movement.” The combined word refers to movements that are faulty
or happen in a way they shouldn't. Dyskinesias are involuntary muscle
movements.

Dystonia: This is a specific type of dyskinesia. With dystonia, muscles

tense up for longer periods.
 Dystonia seems to be related to a problem in the
basal ganglia. That's the area of the brain that is
responsible for initiating muscle contractions.
These regions of the brain control the speed and
fluidity of movement and prevent unwanted

PATHOPHYSIO
movements.

LOGY OF
DYSTONIA The problem involves the way the nerve cells communicate. There
may be abnormalities in the brain’s ability to process a group of
chemicals called neurotransmitters that help cells in the brain
communicate with each other. There also may be abnormalities in
the way the brain processes information and generates commands
to move. In most cases, no abnormalities are visible using magnetic
resonance imaging or other diagnostic imaging.
 Childhood onset – 0 to age 12

Adolescent onset – age 13 to

CLASSIFICAT 20
ION OF
DYSTONIA – Adult onset – older than age 20
BY AGE
CLASSIFICATION OF DYSTONIA – BY
BODY PART
Voice box and Hand and forearm
FOCAL DYSTONIA: Jaw or tongue
Neck (cervical Eyelids vocal cords (writer's dystonia)
affects just a single (oromandibular
dystonia) (blepharospasms) (laryngeal (musician's
body part. dystonia)
dystonia) dystonia)

SEGMENTAL
DYSTONIA: Cervical dystonia Meige syndrome
affects 2 or more (head, face and (multiple parts of
adjacent body neck) face)
parts

MULTIFOCAL
DYSTONIA: HEMIDYSTONIA: GENERALIZED
affects 2 or more affects one half of DYSTONIA: affects
the body most of or all of the
body parts distant body.
from one another
 Most primary dystonias are variable, have adult onset, and are focal or
CLASSIFICAT segmental in nature. However, there are specific primary dystonias with
childhood or adolescent onset that have been linked to genetic mutations.
ION OF DYT1 gene mutation
DYSTONIA – • The majority of early-onset primary dystonias, which may appear during
childhood or early adulthood, are due to mutations of a gene known as DYT1.
BY CAUSE • Dominantly inherited generalized dystonia
• long arm of chromosome 9 at 9q34
• symptoms begin in a limb and then spread to other regions of the body
• average age of onset of 12 and seldom develops after age 29

PRIMARY DYT6 gene mutation

• Autosomal dominant primary dystonia
• chromosome 8 (8p21q22)

(IDIOPATH • rarer than DYT1 dystonia

• begins at an initial site but spreads to multiple body regions, most commonly the
limbs, head or neck

IC) • difficulties with speech articulation have been noted

DYT7, DYT2, DYT11, and DYT4 gene mutations

 This type of dystonia results from environmental or other damage to the
CLASSIFICAT brain, or from exposure to certain types of medications.

ION OF
DYSTONIA – Structural brain lesions

BY CAUSE •
•
Traumatic brain injury
Birth injury
• Stroke
• Brain tumor or paraneoplastic syndromes
• Oxygen deprivation (cerebral hypoxia)
• Carbon monoxide, cyanide, manganese or methanol poisoning

SECONDA
• Cerebral palsy
• Infections such as tuberculosis or encephalitis

RY Drugs/medications (prescribed or recreational)

• Neuroleptics (antipsychotics)

(ACQUIRE •
•
•
Antiemetics
Antidepressants
Alcohol

D)
• Cocaine
 Heredodegenerative dystonia generally results from neurodegenerative
CLASSIFICAT disorders in which other neurological symptoms are present and in which
heredity plays a role. (X-linked dominant, X-linked recessive, Autosomal
ION OF dominant, Autosomal recessive syndromes)

DYSTONIA – X-linked dystonia-parkinsonism (Lubag)

BY CAUSE Huntington's disease

Wilson's disease
Neuroacanthocytosis
Rett’s syndrome

Heredo- Parkinson's disease

juvenile parkinsonism
Degenerative Ataxia telangiectasia

Dystonia
Gangliosidoses
Lesch-Nyham disease
Methylmalonic acidemia
Metachromatic leukodystrophy
Mitochondrial disorders
CLASSIFICAT Dystonia-plus syndromes results from nondegenerative,
ION OF neurochemical disorders associated with other
neurological conditions.
DYSTONIA –
BY CAUSE

Dopa-responsive dystonia (DRD) or Segawa syndrome

Dystonia-plus Rapid-onset dystonia-parkinsonism (RDP)

Syndromes Myoclonus-dystonia
SYMPTOMS OF DYSTONIA
• May begin in a single area, such as leg, neck or arm. Focal dystonia that begins after age 21
usually starts in the neck, arm or face. It tends to remain focal or become segmental.
• Occur during a specific action, such as writing by hand. In advanced stages, it may occur at
rest..
• Worsen with stress, fatigue or anxiety.
• Become more noticeable over time.
• It usually affects the same group of muscles, thus causing a repetitive pattern of
movements over time.
• Eye irritation, excessive sensitivity to bright light and increased blinking may be an
indication of blepharospasm.
• Subtle facial spasms, difficulty chewing or changes in speech cadence may indicate
oromandibular dystonia.
• Cramping of the hand during writing or fatigue during walking or other manual activities
may indicate limb dystonia.
• Dystonia is also variable in its progression. For some patients, the disease steadily
worsens; for others, it plateaus. For some, dystonia stabilizes at a relatively minor stage
and progresses no further. The advanced stage is marked by rapid and involuntary
rhythmic movements, twisting postures, contortions of the torso, abnormal gait and
ultimately, fixed postural deformities.
• The disorder is usually not associated with pain, but it certainly may lead to pain in
affected areas.
• Cervical dystonia can be particularly painful due to degeneration of the spine,
irritation of nerve roots or frequent headaches.
• Limb dystonia may not cause pain initially but may become painful over time.
• Uncontrolled muscle movements may cause the joints to deteriorate, possibly leading
to the onset of arthritis
TESTING & DIAGNOSIS
A healthcare provider, often a neurologist, can
diagnose dystonia based on your symptoms, a
neurological exam and various medical tests.
A wide range of lab, diagnostic and imaging tests
are possible with dystonia. The most likely tests
depend on your symptoms and what conditions
healthcare providers suspect. Possible tests
include, but aren’t limited to, the following:
• Blood tests (these can detect many
problems, ranging from immune system
issues to toxins and poisons, especially
metals like copper or manganese).
• Computerized tomography (CT) scan.
• Electroencephalogram (EEG).
• Electromyogram (nerve conduction test).
• Genetic testing.
• Magnetic resonance imaging (MRI).
• Positron emission tomography (PET) scan.
• Spinal tap (lumbar puncture).
MANAGEMENT
MEDICATIONS
•Anticholinergic agents:
- trihexyphenidyl and benztropine
- Sometimes these medications can be sedating or cause difficulties with memory, especially at higher dosages and in
older individuals. These side effects can limit their usefulness. Other side effects such as dry mouth and constipation
can usually be managed with dietary changes or other medications.

•GABAergic agents: 
- benzodiazepines such as diazepam, lorazepam, clonazepam, and baclofen.
-  Drowsiness is their common side effect.

•Dopaminergic agents:
- Some individuals may benefit from drugs that block the effects of dopamine, such as tetrabenazine
-  Side effects (such as weight gain, depression, and involuntary and repetitive muscle movements) can restrict the use
of these medications. 
- Dopa-responsive dystonia (DRD) is a specific form of dystonia that most commonly affects children, and often can be
well managed with levodopa
 BOTULINUM TOXIN

Botulinum injections often are the most effective treatment for the focal dystonias. Injections of small
amounts of this chemical into affected muscles prevent muscle contractions and can provide temporary
improvement in the abnormal postures and movements that characterize dystonia. 
The effect typically is seen a few days after the injections and can last for several months before the injections
must be repeated. The injection needs to be repeated about every three months.

DEEP BRAIN STIMULATION (DBS)

DBS may be recommended for some individuals with dystonia, especially when medications do not sufficiently
ease symptoms or the side effects are too severe. DBS involves surgically implanting small electrodes that are
connected to a pulse generator into specific brain regions that control movement. Controlled amounts of
electricity are sent into the exact region of the brain that generates the dystonic symptoms and interfere with
and block the electrical signals that cause the symptoms.
 PHYSICAL AND OTHER THERAPIES 

These may be an adjunct to other therapeutic approaches. Speech therapy and/or voice therapy can be
helpful for some affected by spasmodic dysphonia. Physical therapy, the use of splints, stress management,
and biofeedback also may help individuals with certain forms of dystonia.

OTHER SURGERIES 

These aim to interrupt the pathways responsible for the abnormal movements at various levels of the nervous
system. Some operations purposely damage small regions of the thalamus (thalamotomy), globus pallidus
(pallidotomy), or other deep centers in the brain. Other surgeries include cutting nerves leading to the nerve
roots deep in the neck close to the spinal cord (anterior cervical rhizotomy) or removing the nerves at the
point they enter the contracting muscles (selective peripheral denervation). Some individuals report
significant symptom reduction after surgery.
COMPLICATIONS

Physical disabilities that affect your performance of daily activities or specific tasks

Difficulty with vision that affects your eyelids

Difficulty with jaw movement, swallowing or speech

Pain and fatigue, due to constant contraction of your muscles

Depression, anxiety and social withdrawal

 PREVENTION
Dystonia happens unpredictably, so you
can’t prevent it.
Don’t ignore infections. Eye and ear
infections need fast treatment. When
these infections spread to your brain,
they become a serious threat. Infections
can cause brain inflammation
(encephalitis) that can lead to dystonia.
You also can’t reduce the risk of
developing primary dystonia. That’s
because you either inherit it or develop
it for unknown reasons.
Wear safety equipment. Traumatic brain
injuries can damage your brain and
cause dystonia. That makes safety
equipment essential in reducing your
risk of developing this condition.
Manage your stress. Anxiety and stress
can cause dystonia to worsen. You can
reduce this risk by managing your stress
and anxiety with techniques like
meditation, relaxation training, exercise
and more.
Eat a balanced diet and maintain a
healthy weight. Many conditions related
However, some causes of secondary to your circulatory and heart health,
dystonia are preventable, or you can especially stroke, can damage areas of
reduce your risk of developing them. your brain, causing dystonia. Preventing,
The things you can do include: delaying or reducing the severity of
these conditions can have a big effect on
whether or not you develop dystonia.
Manage your health conditions. Chronic
Avoid caffeine and alcohol if your
conditions cause or contribute to other
healthcare provider recommends this.
conditions that lead to dystonia. That
These can make dystonia symptoms
includes conditions like diabetes, high
worse.
blood pressure, epilepsy and others.
Avoid activities that make symptoms
worse. Some forms of dystonia are
more likely to happen under certain
circumstances. Avoiding those
circumstances, when possible, can
reduce the chances of dystonia
symptoms flaring up.
LATEST RESEARCH…
Gene therapy may be a future
option for patients with
inherited forms of dystonia in
which a specific gene is thought
to be involved. Gene therapy for
dystonia, though, has not yet
been tested in patients.
Transcranial magnetic stimulation is
also being investigated as a non-
invasive stimulation to treat dystonia.
So far it has been studied in only small
controlled trials for focal hand or
cervical dystonia. Additional
investigation is needed.
RELATED DISORDERS
Pseudodystonia is a general term for a group of
conditions that can resemble dystonia. Such Essential tremor (ET) is a progressive, neurological disorder
conditions include: characterized by tremor, most often of the hands or arms. A
• dystonic tics tremor is an involuntary, rhythmic, movement of a body part.
• spinal abnormalities such as forward flexion or Tremor may be seen as involuntary shaking or trembling of the
bending of the trunk and spine (camptocormia) affected area.
and abnormal side-to-side curvature of the spine
(scoliosis)
• partial dislocation of the shoulder (shoulder
subluxation)
• Chiari malformations
Additional movement disorders including chorea, myoclonus,
• soft tissues masses
and tics may also need to be distinguished from dystonia.
• congenital muscular torticollis (wryneck), in
These movement disorders can occur as isolated findings or as
which the muscles that extend down the side of part of larger syndromes.
the neck are abnormally tight and short
• Dupuytren’s contracture, a connective tissue
disorder characterized by fixation of certain
joints. 
REFERENCES
1. https://www.webmd.com/brain/dystonia-causes-types-symptoms-and-treatments
2. https://www.aans.org/en/Patients/Neurosurgical-Conditions-and-Treatments/Dystonia
3. https://www.ninds.nih.gov/dystonias-fact-sheet
4. https://my.clevelandclinic.org/health/diseases/6006-dystonia
5. https://rarediseases.org/rare-diseases/dystonia/
6. http://www.pkjns.com/wp-content/uploads/2014/08/IssuesDystonia.pdf
 DREAM TEAM
CC: Dr. Khairunnisa & Dr. Farhan
THANK YOU!