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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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Dystonia

Definition:
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.

Classification:

Types of dystonia
*Generalized
*Focal
*Segmental
*Sexual
*Intermediate
*Acute Dystonic Reaction

Generalized dystonias:
*Normal birth history and milestones
*Autosomal dominant
*Childhood onset
*Starts in lower limbs and spreads upwards
*Also known as “idiopathic torsion dystonia” (old terminology “dystonia musculrum deformans”)

Focal dystonias:
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.
Symptoms:
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.

Causes:
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.

Diagnosis:
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’.

Treatment:
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.

Other treatment:
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.

Good advice:
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.

Prognosis:
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.

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/dystonia.shtml
http://en.wikipedia.org/wiki/Dystonia
http://www.nlm.nih.gov/medlineplus/dystonia.html#cat5
http://www.netdoctor.co.uk/diseases/facts/dystonia.htm

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Adrenoleukodystrophy

Alternative Names:  Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison Complex


Definition:
Adrenoleukodystrophy (ALD),  is a rare, inherited disorder that leads to progressive brain damage, failure of the adrenal glands and eventually death. ALD is a disease in a group of genetic disorders called leukodystrophies. Adrenoleukodystrophy progressively damages the myelin sheath, a complex fatty neural tissue that insulates many nerves of the central and peripheral nervous systems. Without functional myelin, nerves are unable to aid in the conduction of an impulse, which leads to increasing disability.

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Patients with X-linked ALD have defects in the ATP-binding cassette, sub-family D (ALD), member 1 transporter protein, which is encoded by the ABCD1 gene. The ABCD1 (aka ALDP) protein is indirectly involved in the break down of very long-chain fatty acids (VLCFAs) found in the normal diet. Lack of this protein can give rise to an over-accumulation of VLCFAs which can lead to damage to the brain, adrenal gland, and peripheral nervous system.

There are several different types of the disease which can be inherited, but the most common form is an X-linked condition. X-linked ALD primarily affects males, but about one in five women with the disease gene develop some symptoms. Adrenomyeloneuropathy is a less-severe form of ALD, with onset of symptoms occurring in adolescence or adulthood. This form does not include cerebral involvement, and should be included in the differential diagnosis of all males with adrenal insufficiency. Although they share a similar name, X-linked ALD and neonatal adrenoleukodystrophy (NALD), a peroxisome biogenesis disorder, are completely different diseases.

Although this disorder affects the growth and/or development of myelin, leukodystrophies are different from demyelinating disorders such as multiple sclerosis where myelin is formed normally but is lost by immunologic dysfunction or for other reasons.

Causes:
There are several types of ALD, which may be inherited in two different ways, and which can cause different patterns of disease even among people in the same families.

ALD is most commonly inherited as an X-linked condition. This means the abnormal gene is found on the X chromosome.

Because women have two X chromosomes, they have a spare normal gene as well as the abnormal one, so generally only carry the condition (although they may have a mild form of the disease). Men have only one X, so they are affected by the condition.

X-linked ALD may occur in three forms, with onset of symptoms in either childhood or adulthood.

Neonatal ALD is much less common. In this type of ALD the faulty gene isn’t X-linked but is found on one of the other chromosomes. This means both boys and girls can be affected.

Symptoms:
Childhood cerebral type:

•Changes in muscle tone, especially muscle spasms and spasticity
•Crossed eyes (strabismus)
•Decreased understanding of verbal communication (aphasia)
•Deterioration of handwriting
•Difficulty at school
•Difficulty understanding spoken material
•Hearing loss
•Hyperactivity
•Worsening nervous system deterioration
*Coma
*Decreased fine motor control
*Paralysis
•Seizures
•Swallowing difficulties
•Visual impairment or blindness

Adrenomyelopathy:
•Difficulty controlling urination
•Possible worsening muscle weakness or leg stiffness
•Problems with thinking speed and visual memory

.
Adrenal gland failure (Addison type):

•Coma
•Decreased appetite
•Increased skin color (pigmentation)
•Loss of weight, muscle mass (wasting)
•Muscle weakness
•Vomiting

Diagnosis:
The diagnosis is established by clinical findings and the detection of serum very long-chain free fatty acid levels. MRI examination reveals white matter abnormalities, and neuro-imaging findings of this disease are somewhat reminiscent of the findings of multiple sclerosis. Genetic testing for the analysis of the defective gene is available in some centers.

Neonatal screening may become available in the future, which may permit early diagnosis and treatment.

Genetics:
X-linkedX-linked ALD (X-ALD) is the most common form of ALD. In X-ALD, the defective ABCD1 gene resides on the X chromosome (Xq28). The incidence of X-ALD is at least 1 in 20,000 male births.[6] The ABCD1 (“ATP-binding cassette, subfamily D, member 1”) gene was discovered in 1993 and codes for a peroxisome membrane protein necessary for the ?-oxidation of VLCFAs.

X-ALD is characterized by excessive accumulation of very long-chain fatty acids (VLCFA), which are fatty acids with chains of 25–30 carbon atoms. The most common is hexacosanoate, with a 26 carbon skeleton. The elevation in (VLCFA) was originally described by Moser et al. in 1981.[8] The precise mechanisms through which high VLCFA concentrations in affected organs cause the disease is still unknown.

Autosomal
Neonatal adrenoleukodystrophy (NALD) is one of three autosomal dominant disorders which belong to the Zellweger spectrum of peroxisome biogenesis disorders (PBD-ZSD).The other two disorders are Zellweger syndrome (ZS), and infantile Refsum disease (IRD). NALD is most frequently caused by mutations in the PEX1, PEX5, PEX10, PEX13, and PEX26 genes.

Treatment:
There’s no cure for ALD, and the nervous system progressively deteriorates, with death usually occurring between one and ten years after the start of symptoms.

Research suggests that a mixture of oleic acid and euric acid, known as Lorenzo’s oil, may delay or reduce symptoms in boys with X-linked ALD by lowering levels of VLCFAs. The most benefit is seen when the treatment is used before symptoms develop, before irreversible damage has occurred.

Bone marrow transplants have also been used with some success in boys in the early stages of X-linked ALD but are not without considerable risk. Newer treatments that may lower brain levels of VLCFA are being tested. Treatment with docosahexanoic acid (DHA) may help young children with neonatal ALD.

Genetic research has identified the transporter proteins and their faulty genes, starting the path towards gene therapy.

Research directions:
Active clinical trials are currently in progress to determine if the proposed treatments are effective:

*Glyceryl Trioleate (Lorenzo’s oil) for Adrenomyelneuropathy.
*Beta Interferon and Thalidomide  This study is closed.
*Combination of Glyceryl Trierucate and Glyceryl Trioleate (Lorenzo’s Oil) in assymptomatic patients.
*Hematopoietic stem cell transplantation.

Prognosis:
Treatment is symptomatic. Progressive neurological degeneration makes the prognosis generally poor. Death occurs within one to ten years of presentation of symptoms. The use of Lorenzo’s Oil, bone marrow transplant, and gene therapy is currently under investigation.

Possible Complications:
•Adrenal crisis
•Vegetative state (long-term coma)

Prevention:
Genetic counseling is recommended for prospective parents with a family history of X-linked adrenoleukodystrophy. Female carriers can be diagnosed 85% of the time using a very-long-chain fatty acid test and a DNA probe study done by specialized laboratories.

Prenatal diagnosis of X-linked adrenoleukodystrophy is also available. It is done by evaluating cells from chorionic villus sampling or amniocentesis.

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/adrenoleukodystrophy1.shtml
http://en.wikipedia.org/wiki/Adrenoleukodystrophy
http://www.nlm.nih.gov/medlineplus/ency/article/001182.htm

http://health.bwmc.umms.org/imagepages/17277.htm

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Ailmemts & Remedies

Tics

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Definition:–
Tics are purposeless, rapid and repeated contractions of a group of muscles that result in movement (a motor tic) or the production of a sound (a vocal tic). Sometimes, a tic involves more complex behaviour.

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Motor tics often involve the muscles of the face, head and neck, with movements such as blinking, lip smacking, facial twitching, grimacing and shrugging of the shoulders. Common vocal tics include coughing, grunting or clearing the throat.

The intensity of a tic can vary. Occasionally, tics are forceful, which can be frightening and uncomfortable.

Tics aren’t voluntary movements – in other words, they can’t be consciously controlled – although some people say they feel a strong urge to move, linked to stress. Some people are able to suppress their tics briefly, but this is said to be like holding back a sneeze and tension rises until the tic finally escapes.

Tics are usually divided into several categories, as described below.:-

Transient tic disorders:-
As many as one in ten children will develop a transient or simple tic at some point during their school years. Such tics usually occur in just one muscle group and don’t last more than a few months, although a child may have a series of different transient tics over a period of years.

Transient motor tics may include blinking, squinting, snapping the fingers, jerking the head or wrinkling the nose. Occasionally, transient vocal tics such as gurgling or humming occur. The tic may even involve more bizarre behaviour, such as touching objects or licking.

Transient tics may become more prominent when a child is tired or excited, but they don’t lead to harm and don’t need treatment. They decrease or disappear when the child sleeps.

Chronic tic disorders:-
Not only do chronic tics persist, sometimes for years, but they change little in their character. While they don’t usually need treatment, they can be disruptive, especially if a child realises others think them strange. Occasionally, a person has several tics and is said to have chronic multiple tics.

Tourette syndrome:
Chronic tics are also a feature of Tourette syndrome. This neurological disorder causes multiple motor and vocal tics, which can be quite dramatic and frequently change in nature. Tourette syndrome usually begins in early childhood, varies in intensity and lasts more than a year.

Tourette can be particularly debilitating because the vocal tics can include the uncontrollable use of obscene language (known as coprolalia) and repetition of phrases the person hears others use (called echolalia).

Those with Tourette syndrome often have a variety of psychological problems too, such as attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD) and self-harm behaviour, although the link isn’t clear.

Like other tics, the exact cause of Tourette syndrome isn’t known, although genetics appear to play a part. It’s likely that a particular gene makes a person more vulnerable than others to environmental factors that also contribute to the condition.

Simple tics:-
Simple motor tics are typically sudden, brief, meaningless movements that usually involve only one group of muscles, such as eye blinking, head jerking or

shoulder shrugging.   Motor tics can be of an endless variety and may include such movements as hand clapping, neck stretching, mouth movements, head, arm or leg jerks, and facial grimacing.

A simple phonic tic can be almost any sound or noise, with common vocal tics being throat clearing, sniffing, or grunting.

Complex tics:-
Complex motor tics are typically more purposeful-appearing and of a longer nature. They may involve a cluster of movements and appear coordinated.Examples of complex motor tics are pulling at clothes, touching people, touching objects, echopraxia and copropraxia.

Complex phonic tics may fall into various series (categories), including echolalia (repeating words just spoken by someone else), palilalia (repeating one’s own previously spoken words), lexilalia (repeating words after reading them) and coprolalia (the spontaneous utterance of socially objectionable or taboo words or phrases). Coprolalia is a highly publicized symptom of Tourette syndrome; however, only about 10% of TS patients exhibit coprolalia.Complex tics are rarely seen in the absence of simple tics. Tics “may be challenging to differentiate from compulsions”, as in the case of klazomania (compulsive shouting).

•Simple motor tics involve a single muscle group.
•Complex motor tics usually involve more than one muscle group.
•Complex vocal tics involve more meaningful speech (such as words) than simple vocal tics.
•Complex motor tics aren’t as rapid as simple motor tics and can even look like the person is performing the tic on purpose.

Shoulder shrugging is one of the most common simple motor tics; others include:
•nose wrinkling
•head twitching
•eye blinking
•lip biting
•facial grimacing
•repetitive or obsessive touching
•kicking
•jumping

Common vocal tics include:–
•coughing
•throat clearing
•grunting
•sniffing
•barkingTransient vs. Chronic Tics

Transient vs. Chronic Tics:-
It’s perfectly normal to worry that a tic may never go away. Fortunately, that’s not usually the case. Most tics are temporary and are known as transient tics. They tend to not last more than 3 months at a time.In rarer instances people have tics that persist for an extended period of time. This is known as chronic tic disorder. These tics last for more than a year. Chronic tics can be either motor or vocal, but not both together.

Dignosis:–
Tics can sometimes be diagnosed at a regular checkup after the doctor asks a bunch of questions. No specific test can diagnose tics, but sometimes doctors will run tests to rule out other conditions that might have symptoms similar to tics.

Tic disorders occur along a spectrum, ranging from mild to more severe, and are classified according to duration and severity (transient tics, chronic tics, or Tourette syndrome). Tourette syndrome is the more severe expression of a spectrum of tic disorders, which are thought to be due to the same genetic vulnerability. Nevertheless, most cases of Tourette syndrome are not severe.    The treatment for the spectrum of tic disorders is similar to the treatment of Tourette syndrome.

Differential diagnosis:
Tourettism refers to the presence of Tourette-like symptoms in the absence of Tourette syndrome as the result of other diseases or conditions—also known as secondary causes. Although tic disorders are commonly considered to be childhood syndromes, tics occasionally develop during adulthood; adult-onset tics often have a secondary cause. Tics that begin after the age of 18 are generally not considered symptoms of Tourette’s syndrome.

Tics must be distinguished from fasciculations. Small twitches of the upper or lower eyelid, for example, are not tics, because they do not involve a whole muscle. They are twitches of a few muscle fibre bundles, which one can feel but barely see

The Embarrassment Factor
Many times, people don’t see themselves having a tic — they’re not walking around with a huge mirror at all times! So it’s only natural that they may think that their tic is the worst tic ever. Of course it isn’t, but it’s still a concern for many people with tics. And these exaggerated thoughts can cause unnecessary feelings of embarrassment or angst, and actually make the tic worse.

The tic might seem to begin either for no appreciable reason, or perhaps be incited by something like an eye irritation which begins a cycle of blinking that doesn’t stop when the irritation is gone. The simple tic usually goes away in six months or so, seemingly sooner if the child is not being reminded of it all the time by his family.

Sometimes the symptoms become more chronic. If the symptoms are limited to muscular movements, the condition is called multiple chronic motor tic disorder. If the child has both vocal and motor symptoms which last more than a year, the term Gilles de la Tourette syndrome or more commonly Tourette syndrome.

Symptoms (motor and vocal tics) in Tourette syndrome can be pretty bizarre. Most extreme and distressing are involuntary cursing (coprolalia) and obscene gestures (copropraxia). Suffice it to say that any involuntary repetitive activities or vocalizations in children between 2 and 14 or so deserve consideration for Tourette syndrome.

A significant percentage of children with Tourette syndrome show signs of attention deficit disorder as well. Because treatment of ADD with stimulants such as methylphenidate (Ritalin¨) may possibly initiate or worsen tics, and perhaps may bring on full-blown Tourette syndrome, any new or worsening tics in a child on ADD medication must be immediately reported to the childs physician.

Long term studies of the natural history of Tourette syndrome show the average age of onset as about five to six years old. Tic severity peaks around 10 years of age, with a range between 8 and 12 years. About one fifth of patients with Tourette syndrome will have such severe problems that school is interfered with or impossible. Almost all patients get better with time, and by age 18, half of affected children are tic-free, and nine of ten have only mild or no tics.

Nobody wants to make tics worse, but is there any way to make them better? While you can’t cure tics, you can take some easy steps to lessen their impact:

•Don’t focus on it. If you know you have a tic, forget about it. Concentrating on it just makes it worse.
•Avoid stress-filled situations as much as you can — stress only makes tics worse. So get your work done early and avoid the stress that comes with procrastination and last-minute studying.
•A tic? What tic? If a friend of yours has a tic, don’t call attention to it. Chances are your friend knows the tic is there. Pointing it out only makes the person think about it more.
•Get enough sleep. Being tired can makes tics worse. So make sure to get a full night’s rest!
•Let it out! Holding back a tic can just turn it into a ticking bomb, waiting to explode. Have you ever felt a cough coming on and tried to avoid it? Didn’t work out so well, did it? Chances are it was much worse. Tics are very similar.
In certain cases, tics are bad enough to interfere with someone’s daily life and medication may be prescribed.

Don’t let a little tic dictate who you are or how you act. Learning to live with and not pay attention to the tic will make you stronger down the road.

Treatment and recovery :-
Psychological support and counselling can be helpful for those with disruptive tics and cognitive behavioural therapy may help some people control their condition.

Medication is the most effective treatment in reducing the tic itself. However, the powerful drugs used (such as haloperidol, pimozide, fluphenazine and clonidine) tend to have unpleasant side-effects. So, while 70 per cent of those with Tourette have tried drugs, for example, many people prefer to manage without medication if possible.

*Don’t panic if your child develops a tic – most are mild and transient
*Most tics don’t interfere with life or school and don’t require treatment
*People taking stimulant drugs (for ADHD, for example) may develop tics but these should cease when the drug is stopped
*Stress can aggravate symptoms or simply make life harder – relaxation and biofeedback techniques may help.

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/conditions/tics1.shtml
http://kidshealth.org/teen/diseases_conditions/brain_nervous/tics.html
http://www.drhull.com/EncyMaster/T/tics.html
Tics

http://en.wikipedia.org/wiki/Tic

 

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Supplement Recommendations For Epilepsy

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Throughout history, people prone to seizures were thought to be possessed by demons, to have special powers, or to be mentally ill. Today, we know none of this is true: Epilepsy is a condition that diminishes neither intellectual capacity, creativity, nor productivity.

Epileptic seizures

Epilepsy is a common neurological disorder which causes seizures.

An epileptic seizure is caused by over-activity of the brain cells, which produces a surge of electricity.

This may be due to a variety of factors, such as brain damage from birth injuries, head injury, stroke, brain tumours and alcoholism.

There is some evidence to suggest the condition sometimes has a genetic basis – although it is rare for it to run in families.

In many instances, the cause of the condition is a mystery.

Epilepsy is caused by surges of electrical activity

Symptoms
Short periods of blackouts, confusion, or altered memory.
Repetitive blinking, chewing, or lip smacking, with or without a lack of awareness.
Lack of attention: a blank stare, no response when spoken to.
Loss of consciousness, sometimes with a loud cry, jerking muscles, or loss of bladder or bowel control; often followed by extreme fatigue.

When to Call Your Doctor
If you experience any of the above symptoms.
If you have a seizure for the first time. However, for later seizures, only falls causing an injury or one episode followed closely by another need a doctor’s immediate attention.
Reminder: If you have a medical condition, talk to your doctor before taking supplements.

What It Is
Technically not a disease, epilepsy is a disorder that results from excessive electrical activity in the brain and nervous system. Normally, brain cells transmit electrical impulses in a highly regulated manner. People with epilepsy, however, experience periods when many brain cells fire all at once. This uncontrolled discharge produces symptoms that can range from a blank stare to a loss of consciousness with convulsions. These episodes are called seizures (epilepsy is also known as seizure disorder). Having a single seizure is not necessarily a sign of epilepsy, which is actually defined as having recurrent seizures. In fact, only 27% of people who have a seizure will have another within three years.

What Causes It
In more than half of epilepsy cases, the cause of the disorder is unknown. In the remaining cases, seizures can sometimes be traced to a previous head injury, stroke, brain tumor, or brain infection. Experts think that anyone is susceptible to seizures, but for some reason, certain individuals are particularly vulnerable. Heredity seems to play some role.

How Supplements Can Help
Under no circumstances should individuals using anticonvulsant drugs for epilepsy stop taking them or reduce the dosage on their own. The supplements in the chart are not a substitute for prescription drugs. Instead, they may help correct nutritional deficiencies that can contribute to seizures or aid in controlling seizures in people who continue to have them despite medication. Supplements may eventually allow a physician to reduce the dosage of anticonvulsant drugs, which often have unpleasant side effects.

What Else You Can Do
Get plenty of sleep. Fatigue can predispose you to seizures.
Avoid alcohol. It can interfere with anticonvulsant medications and possibly contribute to seizures.
Don’t try to restrain a person having a seizure or insert a gag or anything else into his mouth to prevent him from biting his tongue. This could cause serious injury to the person or to you if he bites your fingers. Instead, cushion the person’s fall and clear away any sharp or hard objects. When the seizure is over, turn him on his side to prevent possible choking.
Preliminary research suggests that vitamin E can help people with epilepsy. One theory on seizures suggests they’re triggered by damage to the fatty membranes that surround nerve cells. With its antioxidant properties, vitamin E can inhibit the chemical changes in the body that lead to this damage. Although more study is needed, people with epilepsy can safely take 400 IU of vitamin E a day, either in a multivitamin or as a separate supplement.

Supplement Recommendations
Vitamin B Complex
Calcium/Magnesium
GABA
Kava
Manganese
Taurine

Vitamin B Complex
Dosage: 1 pill each morning with food.
Comments: Look for a B-50 complex with 50 mcg vitamin B12 and biotin; 400 mcg folic acid; and 50 mg all other B vitamins.

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Calcium/Magnesium
Dosage: 250 mg each twice a day with food.
Comments: Sometimes sold in a single supplement.

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GABA
Dosage: 500 mg twice a day.
Comments: Often combined with inositol; has tranquilizing effect.

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Kava
Dosage: 250 mg twice a day.
Comments: Standardized to contain at least 30% kavalactones.

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Manganese
Dosage: 20 mg a day.
Comments: Take with meals.

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Taurine
Dosage: 500 mg L-taurine 3 times a day on an empty stomach.
Comments: If using longer than 1 month, add mixed amino acids.

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Click to see also:->Epilepsy published in BBC NEWS

Many ‘believe myths’ on epilepsy

Epilepsy took away my childhood

Epilepsy genes ‘may cut seizures

Within days she seemed calmer

Source:Your Guide to Vitamins, Minerals, and Herbs (Reader’s Digest)

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.

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