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Huntington’s Disease

Definition:
Huntington’s disease (also referred to in more formal medical research as Huntington Disease) is an hereditary neurological disorder of the central nervous system that causes progressive degeneration of cells in the brain, slowly impairing a person’s ability to walk, think, talk and reason.

Most people with Huntington’s disease develop signs and symptoms in their 40s or 50s, but the onset of disease may be earlier or later in life. When disease onset begins before age 20, the condition is called juvenile Huntington’s disease. Earlier onset often results in a somewhat different presentation of symptoms and faster disease progression.

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Medications are available to help manage the symptoms of Huntington’s disease, but treatments can’t prevent the physical, mental and behavioral decline associated with the condition.

It was first described in 1872 by an American doctor, George Huntington, who studied an extended family in Long Island affected by the condition.

Symptoms:
Symptoms of Huntington’s disease commonly become noticeable between the ages of 35 and 44 years, but they can begin at any age from infancy to old age. In the early stages, there are subtle changes in personality, cognition, and physical skills. The physical symptoms are usually the first to be noticed, as cognitive and psychiatric symptoms are generally not severe enough to be recognized on their own at the earlier stages. Almost everyone with Huntington’s disease eventually exhibits similar physical symptoms, but the onset, progression and extent of cognitive and psychiatric symptoms vary significantly between individuals.

The most characteristic initial physical symptoms are jerky, random, and uncontrollable movements called chorea. Chorea may be initially exhibited as general restlessness, small unintentionally initiated or uncompleted motions, lack of coordination, or slowed saccadic eye movements. These minor motor abnormalities usually precede more obvious signs of motor dysfunction by at least three years. The clear appearance of symptoms such as rigidity, writhing motions or abnormal posturing appear as the disorder progresses. These are signs that the system in the brain that is responsible for movement is affected.[6] Psychomotor functions become increasingly impaired, such that any action that requires muscle control is affected. Common consequences are physical instability, abnormal facial expression, and difficulties chewing, swallowing and speaking. Eating difficulties commonly cause weight loss and may lead to malnutrition.  Sleep disturbances are also associated symptoms. Juvenile HD differs from these symptoms in that it generally progresses faster and chorea is exhibited briefly, if at all, with rigidity being the dominant symptom. Seizures are also a common symptom of this form of HD.

Cognitive abilities are impaired progressively. Especially affected are executive functions which include planning, cognitive flexibility, abstract thinking, rule acquisition, initiating appropriate actions and inhibiting inappropriate actions. As the disease progresses, memory deficits tend to appear. Reported impairments range from short-term memory deficits to long-term memory difficulties, including deficits in episodic (memory of one’s life), procedural (memory of the body of how to perform an activity) and working memory. Cognitive problems tend to worsen over time, ultimately leading to dementia. This pattern of deficits has been called a subcortical dementia syndrome to distinguish it from the typical effects of cortical dementias e.g. Alzheimer‘s disease.

Reported neuropsychiatric manifestations are anxiety, depression, a reduced display of emotions (blunted affect), egocentrism, aggression, and compulsive behavior, the latter of which can cause or worsen addictions, including alcoholism, gambling, and hypersexuality.  Difficulties in recognizing other people’s negative expressions have also been observed. Prevalence of these symptoms is also highly variable between studies, with estimated rates for lifetime prevalence of psychiatric disorders between 33% and 76%.  For many sufferers and their families these symptoms are among the most distressing aspects of the disease, often affecting daily functioning and constituting reason for institutionalisation. Suicidal thoughts and suicide attempts are more common than in the general population.

Mutant Huntingtin is expressed throughout the body and associated with abnormalities in peripheral tissues that are directly caused by such expression outside the brain. These abnormalities include muscle atrophy, cardiac failure, impaired glucose tolerance, weight loss, osteoporosis and testicular atrophy

Reported prevalences of behavioral and psychiatric symptoms in Huntington’s disease :
Irritability 38–73%
Apathy 34–76%
Anxiety 34–61%
Depressed mood 33–69%
Obsessive and compulsive 10–52%
Psychotic 3–11%

Causes:
Huntington’s disease is caused by a single defective gene on chromosome 4. This leads to damage of the nerve cells in areas of the brain including the basal ganglia and cerebral cortex, and to the gradual onset of physical, mental and emotional changes.

The Huntington’s Disease Association estimates between 6,500 and 8,000 people in the UK have the disease.

The tragedy is that by the time symptoms appear, the person has often had a family and may have passed on the gene to their children. Each person whose parent has Huntington’s disease has a 50 per cent chance of inheriting the gene, and everyone who inherits the gene will at some stage develop the disease.

In three per cent of cases, there’s no family history of Huntington’s disease and the genetic fault may be a new mutation.

The disease can’t be prevented from developing if someone has the faulty gene. To inherit the illness, the gene only has to come from one parent, making it autosomal dominant.

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The gene for Huntington’s disease can be detected with a blood test, which is available to those aged over 18, before symptoms begin. This can determine whether someone has the faulty gene and help them in their family planning

Risk Factors:
If one of your parents has Huntington’s disease, you have a 50 percent chance of developing the disease. In rare cases, you may develop Huntington’s disease without having a family history of the condition. Such an occurrence may be the result of a genetic mutation that happened during your father’s sperm development.

Complications:
After the onset of Huntington’s disease, a person’s functional abilities gradually worsen over time. The rate of disease progression and duration varies. The time from disease onset to death is often about 10 to 30 years. Juvenile onset usually results in death in fewer than 15 years.

The clinical depression associated with Huntington’s disease may increase the risk of suicide. Some research suggests that the greater risk of suicide occurs before a diagnosis is made and in middle stages of the disease when a person has begun to lose independence.

Eventually, a person with Huntington’s disease requires help with all activities of daily living and care. Late in the disease, he or she will likely be confined to a bed and unable to speak. However, a person’s understanding of surroundings and interactions remain intact for a long time.

Common causes of death include:

*Pneumonia or other infections
*Injuries related to falls
*Complications related to the inability to swallow

Diagnosis:
Medical diagnosis of the onset of HD can be made following the appearance of physical symptoms specific to the disease. Genetic testing can be used to confirm a physical diagnosis if there is no family history of HD. Even before the onset of symptoms, genetic testing can confirm if an individual or embryo carries an expanded copy of the trinucleotide repeat in the HTT gene that causes the disease. Genetic counseling is available to provide advice and guidance throughout the testing procedure, and on the implications of a confirmed diagnosis. These implications include the impact on an individual’s psychology, career, family planning decisions, relatives and relationships. Despite the availability of pre-symptomatic testing, only 5% of those at risk of inheriting HD choose to do so

Clinical:
A physical examination, sometimes combined with a psychological examination, can determine whether the onset of the disease has begun. Excessive unintentional movements of any part of the body are often the reason for seeking medical consultation. If these are abrupt and have random timing and distribution, they suggest a diagnosis of HD. Cognitive or psychiatric symptoms are rarely the first diagnosed; they are usually only recognized in hindsight or when they develop further. How far the disease has progressed can be measured using the unified Huntington’s disease rating scale which provides an overall rating system based on motor, behavioral, cognitive, and functional assessments. Medical imaging, such as computerized tomography (CT) and magnetic resonance imaging (MRI), only shows visible cerebral atrophy in the advanced stages of the disease. Functional neuroimaging techniques such as fMRI and PET can show changes in brain activity before the onset of physical symptoms.

Grenetic:
Because HD follows an autosomal dominant pattern of inheritance, there is a strong motivation for individuals who are at risk of inheriting it to seek a diagnosis. The genetic test for HD consists of a blood test which counts the numbers of CAG repeats in each of the HTT alleles.[38] A positive result is not considered a diagnosis, since it may be obtained decades before the symptoms begin. However, a negative test means that the individual does not carry the expanded copy of the gene and will not develop HD.

A pre-symptomatic test is a life-changing event and a very personal decision. The main reason given for choosing testing for HD is to aid in career and family decisions. Over 95% of individuals at risk of inheriting HD do not proceed with testing, mostly because there is no treatment. A key issue is the anxiety an individual experiences about not knowing whether they will eventually develop HD, compared to the impact of a positive result.  Irrespective of the result, stress levels have been found to be lower two years after being tested, but the risk of suicide is increased after a positive test result. Individuals found to have not inherited the disorder may experience survivor guilt with regard to family members who are affected. Other factors taken into account when considering testing include the possibility of discrimination and the implications of a positive result, which usually means a parent has an affected gene and that the individual’s siblings will be at risk of inheriting it. Genetic counseling in HD can provide information, advice and support for initial decision-making, and then, if chosen, throughout all stages of the testing process. Counseling and guidelines on the use of genetic testing for HD have become models for other genetic disorders, such as autosomal dominant cerebellar ataxias. Presymptomatic testing for HD has also influenced testing for other illnesses with genetic variants such as polycystic kidney disease, familial Alzheimer’s disease and breast cancer

Embryonic:
Embryos produced using in vitro fertilisation may be genetically tested for HD using preimplantation genetic diagnosis. This technique, where a single cell is extracted from a 4 to 8 cell embryo and then tested for the genetic abnormality, can then be used to ensure embryos with affected HTT genes are not implanted, and therefore any offspring will not inherit the disease. It is also possible to obtain a prenatal diagnosis for an embryo or fetus in the womb.

Differential diagnosis:
About 90% of HD diagnoses based on the typical symptoms and a family history of the disease are confirmed by genetic testing to have the expanded trinucleotide repeat that causes HD. Most of the remaining are called HD-like disorders.  Most of these other disorders are collectively labelled HD-like (HDL). The cause of most HDL diseases is unknown, but those with known causes are due to mutations in the prion protein gene (HDL1), the junctophilin 3 gene (HDL2), a recessively inherited HTT gene (HDL3—only found in one family and poorly understood), and the gene encoding the TATA box-binding protein (HDL4/SCA17). Other autosomal dominant diseases that can be misdiagnosed as HD are dentatorubral-pallidoluysian atrophy and neuroferritinopathy. There are also autosomal recessive disorders that resemble sporadic cases of HD. Main examples are chorea acanthocytosis, pantothenate kinase-associated neurodegeneration and X-linked McLeod syndrome

Treatment:
There’s no cure, but supportive care can ease many symptoms and help a person with Huntington’s disease, and their family, lead as normal a life as possible.

Drugs can relieve symptoms of involuntary movements, depression and mood swings. Speech therapy can help improve speech and swallowing problems. A high-calorie diet can help maintain weight and improve symptoms such as involuntary movement and behavioural problems.

Cognitive changes often result in loss of enthusiasm, initiative and organisational skills, which can make multi-tasking difficult. Constant nursing care is needed in the later stages of the disease and support for carers is important, too.

Secondary illnesses, such as pneumonia, are often the cause of death.

There’s extensive research into possible treatments for Huntington’s disease. One technique is the use of transplants of foetal brain cells, which appear in some cases to repair and rejuvenate the damaged area.

Meanwhile, researchers at the University of Leeds have found that one of the body’s naturally occurring proteins is causing some of the disruption that occurs in the brains of those with Huntington’s, and its effects may be modified by using drugs that are already being used to help cancer patients. But it is likely to be years, if at all, before these developments result in an effective treatment.

Prognosis:
The length of the trinucleotide repeat accounts for 60% of the variation in the age of onset and the rate of progression of symptoms. A longer repeat results in an earlier age of onset and a faster progression of symptoms. For example, individuals with a trinucleotide repeat greater than sixty repeats often develop the disease before twenty years of age, and those with less than forty repeats may not develop noticeable symptoms. The remaining variation is due to environmental factors and other genes that influence the mechanism of the disease.

Life expectancy in HD is generally around 20 years following the onset of visible symptoms.  Most of the complications that are life-threatening result from muscle coordination issues, or to a lesser extent from behavioural changes resulting from the decline in cognitive function. The largest risk is pneumonia, which is the cause of death of one-third of those with HD. As the ability to synchronise movements deteriorates, difficulty clearing the lungs and an increased risk of aspirating food or drink both increase the risk of contracting pneumonia. The second greatest risk is heart disease, which causes almost a quarter of fatalities of those with HD. Suicide is the next greatest cause of fatalities, with 7.3% of those with HD taking their own lives and up to 27% attempting to do so. It is unclear to what extent suicidal thoughts are influenced by psychiatric symptoms, as they may be considered to be a response of an individual to retain a sense of control of their life or to avoid the later stages of the disease.  Other associated risks include choking, physical injury from falls, and malnutrition.

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

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/huntingtons1.shtml
http://en.wikipedia.org/wiki/Huntington’s_disease
http://www.mayoclinic.com/health/huntingtons-disease/DS00401

http://www.healthtree.com/articles/huntingtons-disease/causes/

http://www.bothbrainsandbeauty.com/academic-discussions/huntingtons-disease-991

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Shakes and Tremors

Definition:
A shake or a tremor can be described as any involuntary out of the ordinary movement of the body usually due to some kind of neurological dysfunction. The most common shakes of this kind are the tremors typically associated with Parkinson’s Disease. The shakes like those that occur from Parkinson’s disease are what are referred to as at rest tremors because they come on for no apparent reason, and not as the result of any specific movement or stimulation. Other types of shakes are called positional or postural tremors. These are the kinds of shakes that occur during a movement of a body part, like when an arm is over stressed from weightlifting and begins to shake, or any body part shakes or quivers in response to certain stimuli, such as fear, cold or sudden loud sound etc.

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Most of us occasionally experience a tremor or multiple waves of tremors in various parts of our body. Such tremors can be described as a muscle twitch or barely perceptive shaking/trembling of the body parts such as the finger or the hand. Some people perceive tremors as the difficulty to hold onto objects such as pencils, glasses, and papers. Medically defined, a tremor is a rhythmic muscle movement that produces a back-and-forth motion in a hand or limb. While most tremors occur in the hands, they can also affect vocal cords, legs, facial muscles, as well as head movements…..click & see the videos

In some cases, a tremor may be a symptom of a neurological disorder; however, it also occurs very commonly in healthy people. In some cases, the tendency to exhibit tremors is genetic and may run in families. The severity of tremors may range from mild to moderate. More often that not, tremors are not generally a cause for concern until they begin to interrupt day-to-day activities. In addition, long-term alcoholism as well as sudden alcohol withdrawal may destroy nerve cells that can result in tremors, especially in the hand. Sometimes, a tremor may be caused due to an overactive thyroid gland, and may also be caused due to the use of various prescribed and over-the-counter medications.

Most tremors are felt and experienced by middle-aged people and senior citizens, although anyone may be susceptible to them. In some cases, extreme stress or emotional episodes may cause intermittent tremor symptoms in children, teenagers, as well as young adults. There are more than 20different types of tremors, and each may affect a different area of the body.

Some tremors produce a nodding type of movement; while others may produce a side-to-side type of ‘twitching’ movement. One of the most expressive tremors is the condition that is caused by the Parkinson’s disease. Such tremors are caused by damage to areas within the brain that control movement. Parkinson’s disease causes involuntary muscle contractions that produce twisting motions. The person may also have difficulty in attaining a comfortable posture or position.

Causes:.
Shaking is part of the body’s normal response as a defense mechanism or reaction to certain stimulation. In fact one type of uncontrollable shakes are due to this mechanism. These are so called Physiological Shakes. Physiological Shakes are shaking disorders that would be the result of physiological causes, such as a response to cold, to stress, to fever, or as a reaction to certain drugs.

However most uncontrollable shakes are the result of some kind of neurological, not physical problem. There are well over 20 different types of shakes caused by neurological or nervous disorders. Only a neurologist can properly identify which type you may have, and recommend an apropos treatment plan. Neurological shakes are broken down into several categories including:
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Essential Tremor
– Is the shaking of the hands and/or head, that is most often associated with old age. It is a condition whose onset usually occurs over the age of 40. It is believed to be genetic, though no specific gene defect has yet to be identified that causes the condition. However if your parents suffer from essential tremor, there is more than a 50% likelihood that you will as well.

Parkinsonian Tremors – Are those tremors associated with and are often, but not always a precursor to, Parkinson’s Disease. The Parkinsonian tremor is a resting tremor. It is the result of damage to the parts of the brain that control movement. Parkinsonian shakes typically effect the hands, feet, legs, and can also effect the face, chin and lips. Emotional stress increases Parkinsonian shakes.

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Cerebellar Tremor Are shakes that occur upon a targeted movement, such as when reaching ones arm out to press a button. Cerebellar shakes are the result of lesions to the brain. The brain damage to the centers that coordinate body movement is due to congenital defect, disease conditions such as multiple sclerosis, or trauma such as from head injury or stroke.

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There are literally dozens of other types of shakes with different causes. Again only a neurologist can properly evaluate the cause for your shaking disorder and recommend treatment options.

Symptoms:
Tremors are a symptom of a neurological disorder. They could indicate hyperthyroidism or Parkinson’s disease. Alcoholism or sudden alcohol withdrawal could also result in tremors. If tremors affect the day to day activities, then they require medical assistance.

Treatments:-

The National Institute of Neurological Disorders and Stroke, a unit of the United StatesDepartment of Health and Human Services, National Institute of Health, is one of the world’s leaders in researching the neurological disorders such as tremors. Today, there is no cure for most types of tremors; however, studies are in progress.

Certain drugs may relieve some tremors, while others may be alleviated through the reduction of caffeine or other stimulants from a person’s diet. For some, physical therapy helps to reduce the severity of tremors and also helps to improve muscle control.

While most tremors are not life threatening, they do cause decreased quality of living skills, and prevent many people from enjoying an active, healthy lifestyle. In addition, such tremors may have a severe effect on the psychological well-being of any person who is experiencing them. For those suffering from unexplained tremors, diagnosis, which includes the identification of the cause as well as suggested treatments may help to provide some relief.
Tremors are one of the most difficult symptoms of MS to treat. To date, there have been no reports of consistently effective drugs to treat tremors. Varying degrees of success have been reported with agents such as the anti-tuberculosis agent, isoniazid (INH); the antihistamines Atarax and Vistaril; the beta-blocker Inderal; the anticonvulsive Mysoline; a diuretic Diamox; and anti-anxiety drugs Buspar and Klonopin.

Psychological Impact of Tremors
Tremors can have a tremendous emotional and social impact on a person. Unfortunately, people with severe tremors tend to isolate themselves to avoid embarrassment. Isolation can lead to depression and further psychological problems. A psychologist or counselor may be able to help a person with MS deal with these issues and become more comfortable in public. Talk to your doctor if you are having trouble coping with tremors.

Regardless of the cause there is no cure for body shakes. However most of the time involuntary shaking can be controlled to varying degrees. For instance treating the underlying cause can control physiological tremors. For the various types of neurological tremors there are many medications available that can reduce the shakes. Different families of drugs are used to treat the different types of tremors. Your doctor will prescribe the best one for you based on your diagnosis. In addition to medications lifestyle changes will be recommended and are often effective in reducing the shakes. Lifestyle changes can include:

*Elimination of caffeine, alcohol, or any other foods that can stimulate the shakes

*Physical therapy to strengthen muscles and enhance muscle control

*Stress management techniques such as deep breathing and yoga

*Finally in some cases of severe shaking there are surgical interventions available that can often curb the severity of the symptoms. These range from finding and excising the areas of the brain responsible for the shakes, to newer techniques that include the implantation of Deep Brain Stimulation devices. Your medical professional can discuss all surgical options that may be applicable to your particular case.

Uncontrollable shakes and tremors are not only embarrassing in social situations. In the most extreme cases shakes can have an extremely debilitating effect on lifestyle. Simple everyday tasks such as pouring a cup of tea can become impossible.

You may click to see-> Questions related to tremors & answers:

Twitches, Shakes and Tremors: What’s Causing Your Symptoms or Side Effects :

New Discovery On Cause Of Tremor

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.

Resources:
http://www.embarrassingissues.co.uk/Shakes.html
http://www.symptomfind.com/symptoms/.
http://www.webmd.com/multiple-sclerosis/guide/managing-related-tremors

http://www.symptomfind.com/symptoms/tremor/

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A Flow of Joy

Good Vibrations …...CLICK & SEE
Feelings vibrate, just as all things in the universe do, at a particular frequency. Negative feelings like anger, guilt, and depression vibrate at low frequencies, while positive feelings like joy, appreciation, and passion vibrate at high frequencies. These high frequency vibrations make us feel good. This is why people and places that inspire and cultivate positive feelings have what we call good vibrations…..CLICK & SEE

Good vibrations inspire health, happiness, and optimism. When we are tuned in to good vibrations, our bodies heal, our hearts open, and our minds shift toward the light. We see new possibilities and feel powerfully energized to follow our inner visions. At the same time, we feel relaxed and capable of manifesting these visions without giving in to stress or struggle. Good vibrations put us in a state of perfect receptivity so that we feel it is the energy flowing through us that accomplishes what needs to be done. We feel guided, supported, protected, and nourished within this joyful flow. We sometimes forget that we are allowed to feel this way all the time....CLICK & SEE

Lower frequency vibrations are not bad in a moral sense, but they are bad in the sense that they simply don’t feel good. Still, they have a purpose, which is to alert us to the fact that we are blocking out the higher frequency vibrations that we need to function well. They are a call for healing ourselves from within. The key to our healing lies in remembering that it is our birthright to feel good and that feeling good is the essence of our true nature. When we are receiving and sending out good vibrations, we are in the flow. When we are not, we can begin to raise our vibration by seeking out people, places, and situations that vibrate at a higher frequency. Whether we need to go on retreat or just call a friend who makes us laugh, seeking out those good vibrations and basking in them is a sacred and loving practice that returns us, time and again, to the joyful flow of the universe.

Source: Daily Om

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Brain Pacemaker for Parkinson’s Patients

Parkinsonson’s sufferers who had electrodes implanted in their brains improved substantially more than those who took only medicine, according to the biggest test yet of deep brain stimulation.

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The study offers the most hopeful news to date for Parkinson’s sufferers. The technique reduced tremors, rigidity and flailing of the limbs and allowed people to move freely for nearly five extra hours a day.

But the research also revealed higher-than-expected risks. About 40% of the patients who received these “brain pacemakers” suffered serious side effects, including a surprising number of falls with injuries.

“We had one patient who felt so good he went up to repair his roof, fell down and broke both his legs,” said lead author Fran Weaver of Hines Veterans Affairs Hospital, outside Chicago. “Patients are feeling so much better; they forget they still have Parkinson’s.”

With deep brain stimulation, which was approved by the Food and Drug Administration in 2002 for advanced Parkinson’s, a surgeon implants electrodes in the brain, which are then connected to a pacemaker-like device that can be adjusted and turned off and on. That device, implanted under the collarbone or in the abdomen, sends tiny electrical pulses to the brain, disabling overactive nerve cells.

The researchers studied 255 people with advanced Parkinson’s at 13 hospitals. After six months, it was found that in the surgery group, 86 out of 121 (71%) saw improvements in movement, as scored by the neurologists. In the medication group, 43 out of 134 patients (32%) showed improvements. The latest findings were published in the Journal of the American Medical Association.

Sources: The Times Of India

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Dystonia

Definition:
Dystonia is the term used to describe a condition that causes involuntary sustained muscle contractions that lead to abnormal movements and postures.

It is a neurological disorder but does not lead to problems with other functions of the brain such as intellect.It is a neurological movement disorder in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The disorder may be inherited or caused by other factors such as birth-related or other physical trauma, infection, poisoning (eg. lead poisoning) or reaction to drugs.

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Types of Dystonia:

* Generalized
* Segmental
* Intermediate

The Focal Dystonias:

These are the most common dystonias and tend to be classified as follows:

* Cervical dystonia (spasmodic torticollis). This affects the muscles of the neck, causing the head to rotate to one side, to pull down towards the chest, or back, or a combination of these postures.

* Blepharospasm. This affects the muscles around the eyes. The sufferer experiences rapid blinking of the eyes or even their forced closure causing effective blindness.

* Oculogyric crisis. 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.

* Oromandibular dystonia. This affects the muscles of the jaw and tongue, causing distortions of the mouth and tongue.

* Spasmodic dysphonia/Laryngeal dystonia. This affects the muscles of the larynx, causing the voice to sound broken or reducing it to a whisper.

* Oromandibular dystonia: Dystonia affecting the muscles of the jaw, tongue and mouth

* Laryngeal dystonia: Dystonia affecting the speech muscles

* Writer’s cramp: Dystonia affecting the ability to write and sometimes other hand-based tasks

There are other types of dystonia that affect more than one area, including generalised dystonia that affects most of the body, frequently involving the legs and back (trunk).

Focal hand dystonia (also known as musician’s or writer’s cramp). This affects a 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 “task-specific,” meaning that it is generally only apparent during certain activities. Focal hand dystonia is neurological in origin, and is not due to fatigue.

The combination of blepharospasmodic contractions and oromandibular dystonia is called cranial dystonia or Meige’s syndrome.

Segmental Dystonias:

Segmental dystonias affect two adjoining parts of the body:

* Hemidystonia. This affects an arm and a leg on one side of the body.

* Multifocal dystonia. This affects many different parts of the body.

* Generalized dystonia. This affects most of the body, frequently involving the legs and back.

Causes:
The cause(s) of dystonia are not yet known or understood; however, they are categorized as follows on a theoretical basis:

Primary dystonia is suspected to be caused by a pathology of the central nervous system, likely originating in those parts of the brain concerned with motor function, such as the basal ganglia, and the GABA (gamma-aminobutyric acid) producing Purkinje neurons. The precise cause of primary dystonia is unknown. In many cases it may involve some genetic predisposition towards the disorder combined with environmental conditions.

Secondary dystonia refers to dystonia brought on by some identified cause, usually involving brain damage, or by some unidentified cause such as chemical imbalance. Some cases of (particularly focal) dystonia are brought on after trauma, are induced by certain drugs (tardive dystonia), or may be the result of diseases of the nervous system such as Wilson’s disease.

It has been suggested that an imbalance of neurotransmitters (such as dopamine) leads to this defect in control of muscles and movement.

In some cases, damage to the basal ganglia can lead to dystonia.

These are referred to as secondary dystonia and can be due to a variety of causes such as stroke or tumour of the basal ganglia, or the result of certain drugs (especially dopamine blocking drugs used to treat psychiatric disorders) and so on.

In the majority of cases, no underlying cause is found apart from possible genetic factors, and these are called primary or idiopathic dystonia.

Who is affected by dystonia?
Dystonia affects men and women of all ages.

If it develops in childhood, it tends to become generalised.

Dystonia which has its onset in adult life usually remains focal and is more common in those over 40 years of age.

The condition can be difficult to diagnose and many patients remain untreated because their symptoms are unrecognised.

Is it inherited?

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 that if a parent has this type of dystonia, there is 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.

This is often difficult to identify, since other family members may have only a mild form of the illness. They may have never sought medical advice or perhaps their dystonia was misdiagnosed.

Symptoms:
Symptoms vary according to the kind of dystonia involved. In most cases, dystonia tends to lead to abnormal posturing, particularly on movement. Many sufferers have continuous pain, cramping and relentless muscle spasms due to involuntary muscle movements.

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Early symptoms may include loss of precision muscle coordination (sometimes first manifested in declining penmanship, frequent small injuries to the hands, dropped items and a noticeable increase in dropped or chipped dishes), cramping pain with sustained use and trembling. Significant muscle pain and cramping may result from very minor exertions like holding a book and turning pages. It may become difficult to find a comfortable position for arms and legs with even the minor exertions associated with holding arms crossed causing significant pain similar to restless leg syndrome. Affected persons may notice trembling in the diaphragm while breathing, or the need to place hands in pockets, under legs while sitting or under pillows while sleeping to keep them still and to reduce pain. Trembling in the jaw may be felt and heard while lying down, and the constant movement to avoid pain may result in TMJ-like symptoms and the grinding and wearing down of teeth. The voice may crack frequently or become harsh, triggering frequent throat clearing. Swallowing can become difficult and accompanied by painful cramping.

Electrical sensors (EMG) inserted into affected muscle groups, while painful, can provide a definitive diagnosis by showing pulsating nerve signals being transmitted to the muscles even when they are at rest. The brain appears to signal portions of fibers within the affected muscle groups at a firing speed of about 10 Hz causing them to pulsate, tremble and contort. When called upon to perform an intentional activity, the muscles fatigue very quickly and some portions of the muscle groups do not respond (causing weakness) while other portions over-respond or become rigid (causing micro-tears under load). The symptoms worsen significantly with use, especially in the case of focal dystonia, and a “mirror effect” is often observed in other body parts: use of the right hand may cause pain and cramping in that hand as well as in the other hand and legs that were not being used. Stress, anxiety, lack of sleep, sustained use and cold temperatures can worsen symptoms.

Direct symptoms may be accompanied by secondary effects of the continuous muscle and brain activity, including disturbed sleep patterns, exhaustion, mood swings, mental stress, difficulty concentrating, blurred vision, digestive problems and short temper. People with dystonia may also become depressed and find great difficulty adapting their activities and livelihood to a progressing disability. Side effects from treatment and medications can also present challenges in normal activities.

In some cases, symptoms may progress and then plateau for years, or stop progressing entirely. The progression may be delayed by treatment or adaptive lifestyle changes, while forced continued use may make symptoms progress more rapidly. In others, the symptoms may progress to total disability, making some of the more risky forms of treatment worth considering.

An accurate diagnosis may be difficult because of the way the disorder manifests itself. Sufferers may be diagnosed as having similar and perhaps related disorders including Parkinson’s disease, essential tremor (ET), carpal tunnel syndrome, TMJ, Tourette’s syndrome, or other neuromuscular movement disorders.

Treatment:
Treatment has been limited to minimizing the symptoms of the disorder as there is yet no successful treatment for its cause. Reducing the types of movements that trigger or worsen dystonic symptoms provides some relief, as does reducing stress, getting plenty of rest, moderate exercise, and relaxation techniques. Various treatments focus on sedating brain functions or blocking nerve communications with the muscles via drugs, neuro-suppression or denervation. All current treatments have negative side effects and risks.

Physicians may prescribe a series of different medications on a trial basis in an effort to find a combination that is effective for a specific patient. Not all patients will respond well to the same medications. Drugs that have had positive results in some patients include anti-Parkinsons agents (Trihexyphenidyl), muscle relaxers (Valium), keppra, and beta-blockers including “off-label” uses for some blood pressure medications.

Drugs such as anticholinergics, which act as inhibitors of the neurotransmitter acetylcholine, may provide some relief. Clonazepam, an anti-seizure medicine, is also sometimes prescribed. However, for most sufferers their effects are limited and side effects like mental confusion, sedation, mood swings and short-term memory loss occur.

Botulinum toxin injections into affected muscles have proved quite successful in providing some relief for around 3-6 months, depending on the kind of dystonia. Botox injections have the advantage of ready availability (the same form is used for cosmetic surgery) and the effects are not permanent. There is a risk of temporary paralysis of the muscles being injected or the leaking of the toxin into adjacent muscle groups causing weakness or paralysis in them. The injections have to be repeated as the effects wear off and around 15% of recipients will develop immunity to the toxin. There is a Type A and Type B toxin approved for treatment of dystonia; often those that develop resistance to Type A may be able to use Type B.

Surgery, such as the denervation of selected muscles, may also provide some relief; however, the destruction of nerves in the limbs or brain is not reversible and should only be considered in the most extreme cases. Recently, the procedure of deep brain stimulation (DBS) has proved successful in a number of cases of severe generalised dystonia.

One type of dystonia, dopa-responsive dystonia, can be completely treated with regular doses of L-dopa in a form such as Sinemet (carbidopa/levodopa). Although this doesn’t remove the condition, it does alleviate the symptoms most of the time.

A baclofen pump has been used to treat patients of all ages exhibiting muscle spasticity along with dystonia. The pump delivers baclofen via a catheter to the thecal space surrounding the spinal cord. The pump itself is placed in the abdomen. It can be refilled periodically by access through the skin.

Physical therapy can sometimes help with focal dystonia. A structured set of exercises is tailored to help the affected area.

Prognosis:Unfortunately, there is not yet a cure for most forms of dystonia. Nowadays, however, many dystonic conditions can be very successfully managed. In many cases, 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). 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 very 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.


Living with Dystonia:

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.

Most people do manage to develop effective strategies for coping with the challenges that their condition brings.

Successful treatments to lessen their symptoms, effective pain control and the acquisition of sensory ‘tricks’ all help to ameliorate social situations.

Development:In the last few years, awareness of dystonia has increased and the outlook for people with dystonia is improving.

The Dystonia Society, a registered charity, works hard to speed up the processes of both research and recognition.

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

Resources:
http://en.wikipedia.org/wiki/Dystonia
http://news.bbc.co.uk/2/hi/health/medical_notes/6237440.stm