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Dystonia is a syndrome of spasms and sustained contractions of the muscles. These muscle movements are not under voluntary control and they result in repetitive abnormal movements of parts of the body or persistently abnormal postures.
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Dystonia is a movement disorder which causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes they are painful.
Dystonia can affect just one muscle, a group of muscles or all of your muscles. Symptoms can include tremors, voice problems or a dragging foot. Symptoms often start in childhood. They can also start in the late teens or early adulthood. Some cases worsen over time. Others are mild.
Some people inherit dystonia. Others have it because of another disease. Either way, researchers think that a problem in the part of the brain that handles messages about muscle contractions might cause dystonia. There is no cure. Instead, doctors use medicines, surgery, physical therapy and other treatments to reduce or eliminate muscle spasms and pain.
Dystonia is incurable thought to affect at least 40,000 people in the UK.
The different types of dystonia include:
•Cervical dystonia (spasmodic torticollis) – affects the neck muscles, causing the head to twist, pull in one direction or shake
•Blepharospasm – dystonia of the muscles around the eyes
•Oromandibular dystonia – affecting the muscles of the jaw, tongue and mouth
•Laryngeal dystonia – affecting the speech muscles
•Writer’s cramp – affecting the ability to write and sometimes other hand-based tasks
There are several types of dystonia that affect more than one area of the body including generalised dystonia, which affects most of the body, frequently involving the legs and back (trunk).
If dystonia develops in childhood, particularly if it starts in the legs, it may spread to other parts of the body and can become generalised. However, when it develops in adults, it usually confines itself to one part of the body (focal dystonia).
Although dystonia is a neurological disorder, it does not lead to problems with other functions of the brain, such as intellect.
It occurs in all parts of the world and affects people of all ages.
Dystonia can affect virtually any single part of the body or several different areas at once.
Types of dystonia
*Acute Dystonic Reaction
*Normal birth history and milestones
*Starts in lower limbs and spreads upwards
*Also known as “idiopathic torsion dystonia” (old terminology “dystonia musculrum deformans”)
These are the most common dystonias and tend to be classified as follows:
*Anismus…. muscles of the rectum……… Causes painful defecation, constipation; may be complicated by encopresis.
*Cervical dystonia (spasmodic torticollis)…. muscles of the neck…. Causes the head to rotate to one side, to pull down towards the chest, or back, or a combination of these postures.
*Blepharospasm…. muscles around the eyes The sufferer experiences rapid blinking of the eyes or even their forced closure causing effective blindness.
*Oculogyric crisis.. muscles of eye and head….An extreme and sustained (usually) upward deviation of the eyes often with convergence causing diplopia. It is frequently associated with backwards and lateral flexion of the neck and either widely opened mouth or jaw clenching. Frequently a result of antiemetics such as the neuroleptics (e.g., prochlorperazine) or metoclopramide. Also can be caused by Chlorpromazine.
*Oromandibular dystonia….muscles of the jaw and muscles of tongue……Causes distortions of the mouth and tongue.
*Spasmodic dysphonia/Laryngeal dystonia…muscles of larynx…..Causes the voice to sound broken or reducing it to a whisper.
*Focal hand dystonia (also known as musician’s or writer’s cramp)…..single muscle or small group of muscles in the hand…..It interferes with activities such as writing or playing a musical instrument by causing involuntary muscular contractions. The condition is sometimes “task-specific,” meaning that it is generally only apparent during certain activities. Focal hand dystonia is neurological in origin, and is not due to normal fatigue. The loss of precise muscle control and continuous unintentional movement results in painful cramping and abnormal positioning that makes continued use of the affected body parts impossible.
The progress of dystonia is unpredictable.
The severity of symptoms can vary from day to day, and while there often is an element of overall progression, it is difficult to estimate how long this will last.
Typically, a focal dystonia will progress gradually over a five-year period, and then progress no further.
Symptoms in all dystonic conditions can vary.
For some people, their dystonia may sometimes improve or disappear altogether for no apparent reason.
As with the onset of any long-term medical condition, some people who develop dystonia may go through an initial period of depression, embarrassment and outrage – or relief that there is an explanation for their symptoms.
Dystonia is a movement disorder. Although the causes of dystonia are not fully known it is currently thought that the condition results from a malfunction in a part of the brain called the basal ganglia.
The basal ganglia are structures situated deep in the brain. They help to regulate voluntary and involuntary movement by controlling muscle contractions in the body.
The problem may mainly lie in an area of the basal ganglia called the globus pallidus. If this area of the brain is not functioning correctly then the control of another structure in the brain called the thalamus is affected.
The thalamus controls the planning and execution of movement and sends nerves to muscles via the spinal cord. The end result is that muscle co-ordination is not regulated properly. The wrong muscles will contract on movement or all muscles will contract unnecessarily causing abnormal movement and posture.
Muscles positioned around joints usually work in pairs opposite each other, eg the biceps and triceps muscles of the upper arm bend or straighten the elbow respectively. Usually if one muscle of a pair is contracted the other is relaxed. However, in dystonia both muscles in the pair contract at the same time leading to the abnormal movement or posture.
It is thought that in some cases there may be a chemical imbalance or ‘wiring fault’ in the basal ganglia. Chemical transmitters, such as dopamine, convey messages from one nerve cell to another within the basal ganglia. If this balance is upset then incorrect signals will be sent out resulting in loss of regulation of co-ordinated movements.
Supporting this theory is the fact that people with dystonia do not show structural abnormalities of the brain. The ‘wiring fault’ theory is therefore more likely because it works at a much smaller scale.
The fault in the basal ganglia may be caused by an inherited factor or be secondary to another problem such as drugs or toxins, or a separate neurological disease. Recently scanning studies using positron emission tomography (PET) in patients with cervical (neck muscle) dystonia have revealed reduced basal ganglia density of an important dopamine receptor (the D2 receptor).
Genetic risk factors:
Dystonia that develops in childhood is often inherited through one or more affected genes.
Most primary segmental or generalised dystonia is inherited in a dominant manner, which means if a parent has this type of dystonia, there’s a 50% chance of passing the dystonia gene to each child.
However, not everyone who inherits the gene develops dystonia, a phenomenon known as reduced penetrance.
Dystonia which develops in adults may also be inherited.
There is no definitive test for dystonia. Diagnosis depends on the presence of characteristic clinical symptoms and signs. The neurologist will perform a full neurological examination and may also perform blood tests or a brain scan to rule out an illness or injury that may be causing the dystonia. If no cause can be found the dystonia is termed ‘idiopathic’.
There is no cure for most forms of dystonia. However, many dystonic conditions can be successfully managed.
Most people manage to develop effective strategies for coping with the challenges their condition brings.
Successful treatments to lessen their symptoms, effective pain control and the acquisition of sensory ‘tricks’ all help to ameliorate social situations.
Various treatments are available for dystonia. These will be determined depending upon the type and severity of the particular condition.
The main options are:
•Botulinum toxin – injections are generally the most effective treatment for dystonia where it affects the muscles of the neck or around the eyes. However, resistance to botulinum toxin can develop in a minority of patients over time.
•Drugs – some work by interfering with neurotransmitters, the chemical substances that carry messages within the brain, while others are designed to relax the muscles, reducing shaking and control muscle spasms. To be effective, they have to be taken continuously.
•Surgery – may be an option where patients have never been or are no longer receptive to other treatments. Treatments include selective denervation and deep brain stimulation (DBS). In the case of the latter, electrodes are planted in the basal ganglia to help rebalance movement and control posture. Recent research has led to a refinement in the placing of electrodes for optimum effect.
Physical therapies such as physiotherapy with ice, heat or ultrasound, speech therapy for spasmodic dysphonia, acupuncture, osteopathy or chiropractic techniques help some patients. However, treatments involving manipulation of the neck are not recommended for spasmodic torticollis. Relaxation therapies such as hypnosis, behaviour therapy, biofeedback and meditation may also help.
A positive attitude is vital. Dystonia is not life-threatening but can be disabling. Dystonia can have a profound effect both emotionally and functionally. Sufferers should try to continue to lead as normal a life as possible. Counselling and family and social support is helpful.
Many patients with focal dystonias such as torticollis can control the abnormal posture for a short time by using sensory tricks or ‘gestes antagonistiques’. The most common geste is to place a finger or hand against the lower face on the same or opposite side to the direction of movement. Other gestes include sucking a pen or necklace or pulling on the end of the nose or an earlobe. Ambient sound has also been found to relieve dystonia.
Focal dystonias such as torticollis and blepharospasm may worsen over several years before stabilising. They may improve or disappear for no apparent reason. The likelihood of this has been estimated from anything from 1 in 10 to 1 in 20, but there is no way to predict whether it will happen. In some cases the dystonia will return after a period of remission, but other patients can remain symptom free for the rest of their lives.
Focal dystonias are unlikely to spread to become generalised dystonia. However, some focal dystonias may be associated with each other.
If the dystonia develops in childhood then it usually spreads to other parts of the body and becomes generalised. This type of dystonia is much more disabling than the adult focal type.
Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.
- Early Brain Therapy May Help Movement in Dystonia Patients (nlm.nih.gov)
- Abnormal neural activity recorded from the deep brain of Parkinson’s disease and dystonia patients (physorg.com)
- Abnormal neural activity recorded from the deep brain of Parkinson’s disease and dystonia patients (scienceblog.com)
- Abnormal neural activity recorded from the deep brain of Parkinson’s disease and dystonia patients (eurekalert.org)
- Abnormal neural activity recorded from the deep brain of Parkinson’s disease and dystonia patients (sciencedaily.com)
- Highlighting our charities: Tyler’s Hope for a Dystonia Cure (tasteofhomegainesville.wordpress.com)
- Long-term follow-up of botulinum toxin therapy for focal hand dystonia: Outcome at 10 years or more (handtutorblog.wordpress.com)
- Brain implant surgeries at UCSF dramatically improve symptoms of debilitating condition (eurekalert.org)
- Doing Good Things Together (go-to-hellman.blogspot.com)
- Brain implant surgeries dramatically improve symptoms of debilitating condition (sciencedaily.com)
- Stiff Neck (Torticollis or wryneck) exercises (drkokogyi.wordpress.com)
- Factors predicting protracted improvement after pallidal DBS for primary dystonia: the role of age and disease duration (springerlink.com)
- Blepharospasm (findmeacure.com)
- Hello world! (framptonshelly72.wordpress.com)