Dystonia is the term used to describe uncontrollable and sometimes painful muscle spasms caused by incorrect signals from the brain. Dystonia is not a single disease but a syndrome – a set of symptoms that cannot be attributed to a single cause but share common elements. Some forms of Dystonia may affect a specific body area, such as the neck, face, jaw, eyes, limbs or vocal cords.
It is caused by abnormal signals from the basal ganglia part of the brain to the muscles. These wrong messages result in sustained muscle contractions. Dystonia is made worse with voluntary movement. Dystonia can vary in severity from mild to severe. It can be focal, involving just one muscle group or body part; or it can be generalised, involving the whole body. It can be present alongside other motor problems such as spasticity, and its presence may not always be readily recognised.
This particular motor disorder can have a delayed onset, e.g. weeks or even months after the brain injury occurred. Dystonia may sometimes become more obvious over time, and this may lead to a loss of motor skills. Severe dystonia can lead to pain, joint damage and deformity.
Dystonia affects men, women and children of all ages and backgrounds. It can develop in childhood and is often particularly disabling for children. Dystonia may be genetic or caused by factors such as physical trauma, exposure to certain medications, or other neurological conditions.
Types of Dystonia
Dystonia can be classified according to the age of onset (childhood, adolescent or adult) by body distribution (focal, multifocal, segmental, generalised or hemidystonia) or by the cause (primary, secondary, ‘dystonia plus’ syndromes or combinations of hereditary and degenerative causes) –
- Focal dystonias affect one part of the body such as eyes, neck, arm or vocal cords and are the most common type.
- Multifocal dystonias affect several different unrelated body parts, such as eyes, hands and vocal cords. Segmental dystonias involve two or more adjacent body parts, such as the arm and neck.
- Hemidystonias affect only one side of the body, and commonly result from a stroke. Generalised dystonia is more severe and can affect the entire body.
- Primary dystonia refers to the situation where dystonia is the only sign and there is no identifiable cause or structural abnormality in the central nervous system.
- Secondary dystonia implies there is a clear cause, such as a change in the structure of the brain, an environmental cause, as part of an inherited or acquired neurological disease or due to drugs or toxins.
- ‘Dystonia-plus’ syndromes occur when dystonia is combined with other pathological changes. It includes dopa-responsive dystonia and myoclonic dystonia.
Causes
The causes of dystonia are not fully known, but 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.
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. Secondary dystonia is particularly common in children.
Other contributing factors –
- Brain tumors
- Carbon monoxide or heavy metal poisoning
- Oxygen deprivation
- Cerebral palsy
- Huntington’s disease
- MS (multiple sclerosis)
- Parkinson’s disease
- Some infections, such as encephalitis, TB (tuberculosis) or HIV
- Some medications, such as those taken by patients with epilepsy
- Stroke
- Traumatic brain or spine injury
- Wilson’s disease.
Symptoms
Dystonia affects different people in varying ways. Muscle contractions might –
- Begin in a single area, such as your leg, neck or arm. Focal dystonia that begins after age 21 usually starts in the neck, arm or face and tends to remain focal or segmental.
- Occur during a specific action, such as handwriting.
- Worsen with stress, fatigue or anxiety.
- Become more noticeable over time.
Areas of the body that can be affected include –
- Neck (cervical dystonia) – Contractions cause the head to twist and turn to one side, or pull forward or backward, sometimes causing pain.
- Eyelids – Rapid blinking or involuntary spasms causing the eyes to close (blepharospasms) can make some people functionally blind. Spasms usually aren’t painful, but might increase when in bright light, under stress or interacting with people. The eyes might feel dry.
- Jaw or tongue (oromandibular dystonia) – People might experience slurred speech, drooling, and difficulty chewing or swallowing. Oromandibular dystonia can be painful and often occurs in combination with cervical dystonia or blepharospasms.
- Voice box and vocal cords (spasmodic dystonia) – People might have a tight or whispering voice.
- Hand and forearm – Some types of dystonia occur only while doing repetitive activity, such as writing (writer’s dystonia) or playing a specific musical instrument (musician’s dystonia).
Complications
Depending on the type of dystonia, complications can include –
- Physical disabilities that affect your performance of daily activities or specific tasks
- Functional blindness from dystonia 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
Treatment
Therapy – Dystonia is not a well-understood problem, and it can be very difficult and frustrating to treat. This is despite the skill of the therapist or the frequency of therapy or excercising. Therapy techniques that can work well for other movement problems such as spasticity and weakness often do not work for individuals with dystonia.
Techniques – Dystonia makes it difficult for a person to control his or her own body movements and posture, and efforts to do so often make the problem worse. Often, the more a person tries to control their posture the more locked in they may become, or the more out of control the affected limb gets. Some individuals are able to develop their own techniques (triggers) for managing their dystonic posturing. Therefore, it is possible for some individuals to gain some control.
Orthoses, splints and lycra – The presence of dystonia can cause difficulties with the fitting, making and wearing of splints or orthoses, and creative solutions are often needed. Protective splints to minimise pain, joint damage and for functional benefits can be useful and important in the management of dystonia. Lycra garment splinting may be worth trialing as it can work well for some individuals, especially in the upper limbs and trunk.
Medications –
- Focal dystonias can sometimes be relieved by botulinum toxin injections.
- Generalised dystonia may respond to oral drug treatments such as L-dopa, baclofen, benztropine, benhexol and others.
- Generalised dystonias are best treated with oral or intrathecal medications. Intrathecal medications are delivered directly to the space surrounding the spinal cord. Intrathecal baclofen is a relatively new, expensive but effective treatment for severe generalised spasticity and dystonia.
Alternative Treatment
Magnesium is an important nutrient for bodily function. This nutrient regulates blood pressure, supports strong bones and muscles and controls heart rhythm. The nutrient also controls the movement of calcium and vitamin C, which are important factors in maintaining effective nerve function.
Lysine is an important amino acid that functions in a variety of ways to treat spasmodic torticollis. The compound has been shown to reduce anxiety by increasing serotonin levels in individuals, which helps reduce the strain of the condition. The nutrient also helps rebuild and repair damaged muscular and skeletal tissue, which also contributes to treatment of the condition.
Iodine is a vital trace element that is a component of normal growth and development. Iodine aids in the removal of toxins from the body that may be contributing to the condition. This nutrient also aids the body in the utilization of important minerals like calcium and silicon, which also contribute to effective nerve function.
Omega 3 fatty acids, B12 and Vitamin D
Acupuncture – Traditional Chinese acupuncture is a part of traditional Chinese medicine, a system of healing which has been practised in China and other Eastern countries for thousands of years. It involves insertion of fine needles. Some patients feel a little sharpness during needle insertion, while others feel nothing at all. It is used as a means of pain relief and also to treat stress, anxiety and depression.
Hypnosis is a psychological technique used in medicine as a tool to bring about positive changes to both the mind and the body. The hypnotic state is produced either by oneself (self-hypnosis) or by responding to a therapist.
Reflexology involves applying pressure to the feet and hands. The application of pressure to parts of the feet or the hands effect corresponding parts of the body through reflex zones and meridian points. Tensions can be felt though this is usually a pleasant sensation for the client. It can be used for general aches and pains, stress-related problems and anxiety and depression.
Autogenic Training is a structured meditative-style practice. It is a sequence of simple mental exercises which bring about profound mental and physical relaxation.
Craniosacral Therapy is a gentle ‘hands-on’ therapy that aims to release tensions, restrictions and misalignments in the body. It can be used alongside conventional treatments. It can be offered for muscular pains as well as stress and anxiety.
Reference –
http://brainfoundation.org.au/disorders/dystonia
http://www.rch.org.au/kidsinfo/fact_sheets/Brain_injury_Dystonia/
http://www.springer.com/in/book/9783709115152
http://rarediseases.org/rare-diseases/dystonia/
http://www.nejm.org/doi/full/10.1056/NEJMicm1412207
http://www.disabled-world.com/artman/publish/dystonia.shtml
http://www.medicalnewstoday.com/articles/171354.php
http://www.medicinenet.com/dystonia/article.htm
http://www.mayoclinic.org/diseases-conditions/dystonia/symptoms-causes/dxc-20163695
http://www.nhs.uk/conditions/Dystonia/Pages/Introduction.aspx
https://www.multiplesystematrophy.org/about-msa/dystonia-non-pharm