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Parkinson’s Disease

Alternative Names : Parkinson disease, Parkinson’s, idiopathic parkinsonism, primary parkinsonism, PD, or paralysis agitans

Definition:
Parkinson’s disease is the second most common neurodegenerative disorder and the most common movement disorder. It is characterized by progressive loss of muscle control, which leads to trembling of the limbs and head while at rest, stiffness, slowness, and impaired balance. As symptoms worsen, it may become difficult to walk, talk, and complete simple tasks.
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Parkinson’s disease is a progressive disorder of the nervous system that affects movement. It develops gradually, often starting with a barely noticeable tremor in just one hand. But while tremor may be the most well-known sign of Parkinson’s disease, the disorder also commonly causes a slowing or freezing of movement. Many people with Parkinson’s disease live long productive lives, whereas others become disabled much more quickly. Premature death is usually due to complications such as falling-related injuries or pneumonia.

Friends and family may notice that your face shows little or no expression and your arms don’t swing when you walk. Speech often becomes soft and mumbling. Parkinson’s symptoms tend to worsen as the disease progresses.

While there is no cure for Parkinson’s disease, many different types of medicines can treat its symptoms. In some cases,  doctor may suggest surgery.

In the United States, about 1 million people are affected by Parkinson’s disease and worldwide about 5 million. Most individuals who develop Parkinson’s disease are 60 years of age or older. Parkinson’s disease occurs in approximately 1% of individuals aged 60 years and in about 4% of those aged 80 years. Since overall life expectancy is rising, the number of individuals with Parkinson’s disease will increase in the future. Adult-onset Parkinson’s disease is most common, but early-onset Parkinson’s disease (onset between 21-40 years), and juvenile-onset Parkinson’s disease (onset before age 21) also exist.

Descriptions of Parkinson’s disease date back as far as 5000 BC. Around that time, an ancient Indian civilization called the disorder Kampavata and treated it with the seeds of a plant containing therapeutic levels of what is today known as levodopa. Parkinson’s disease was named after the British doctor James Parkinson, who in 1817 first described the disorder in great detail as “shaking palsy.”

Symptoms:
The symptoms of Parkinson’s disease can vary from person to person. Early signs may be subtle and can go unnoticed. Symptoms typically begin on one side of the body and usually remain worse on that side even after symptoms begin to affect both sides.

Parkinson’s signs and symptoms may include:

*Tremor. The characteristic shaking associated with Parkinson’s disease often begins in a hand. A back-and-forth rubbing of your thumb and forefinger, known as pill-rolling, is common, and may occur when your hand is at rest. However, not everyone experiences tremors.

*Slowed motion (bradykinesia). Over time, Parkinson’s disease may reduce your ability to initiate voluntary movement. This may make even the simplest tasks difficult and time-consuming. When you walk, your steps may become short and shuffling. Or your feet may freeze to the floor, making it hard to take the first step.

*Rigid muscles. Muscle stiffness can occur in any part of your body. Sometimes the stiffness can be so severe that it limits the range of your movements and causes pain. People may first notice this sign when you no longer swing your arms when you’re walking.

*Impaired posture and balance. Your posture may become stooped as a result of Parkinson’s disease. Balance problems also may occur, although this is usually in the later stages of the disease.

*Loss of automatic movements. Blinking, smiling and swinging your arms when you walk are all unconscious acts that are a normal part of being human. In Parkinson’s disease, these acts tend to be diminished and even lost. Some people may develop a fixed staring expression and unblinking eyes. Others may no longer gesture or seem animated when they speak.

*Speech changes. Many people with Parkinson’s disease have problems with speech. You may speak more softly, rapidly or in a monotone, sometimes slurring or repeating words, or hesitating before speaking.

*Dementia. In the later stages of Parkinson’s disease, some people develop problems with memory and mental clarity. Alzheimer’s drugs appear to alleviate some of these symptoms to a mild degree.

Causes:
The exact cause of Parkinson’s disease is unknown, but several factors appear to play a role, including:

*Genes. Researchers have found specific genetic mutations that likely play a role in Parkinson’s disease. In addition, scientists suspect that many more changes in genes — whether inherited or caused by an environmental exposure — may be responsible for Parkinson’s disease.

*Environmental triggers. Exposure to toxins or certain viruses may trigger Parkinson’s signs and symptoms.In addition, numerous changes are found in the brains of people with Parkinson’s disease. The role of these factors in the development of the disease, if any, isn’t clear, however. These changes include:

*A lack of dopamine. A substance called dopamine acts as a messenger between two brain areas – the substantia nigra and the corpus striatum – to produce smooth, controlled movements. Most of the movement-related symptoms of Parkinson’s disease are caused by a lack of dopamine due to the loss of dopamine-producing cells in the substantia nigra. When the amount of dopamine is too low, communication between the substantia nigra and corpus striatum becomes ineffective, and movement becomes impaired; the greater the loss of dopamine, the worse the movement-related symptoms. Other cells in the brain also degenerate to some degree and may contribute to non-movement related symptoms of Parkinson’s disease.

Although it is well known that lack of dopamine causes the motor symptoms of Parkinson’s disease, it is not clear why the dopamine-producing brain cells deteriorate. Genetic and pathological studies have revealed that various dysfunctional cellular processes, inflammation, and stress can all contribute to cell damage. In addition, abnormal clumps called Lewy bodies, which contain the protein alpha-synuclein, are found in many brain cells of individuals with Parkinson’s disease. The function of these clumps in regards to Parkinson’s disease is not understood. In general, scientists suspect that dopamine loss is due to a combination of genetic and environmental factors.

*Low norepinephrine levels. People with Parkinson’s disease also have damage to the nerve endings that make another important chemical messenger called norepinephrine. Norepinephrine plays a role in regulating the autonomic nervous system, which controls automatic functions, such as blood pressure regulation.

*The presence of Lewy bodies. Unusual protein clumps called Lewy bodies are found in the brains of many people with Parkinson’s disease. How they got there and what type of damage, if any, Lewy bodies might cause is still unknown.

Risk Factors:
Risk factors for Parkinson’s disease are:

*Age : Age is the largest risk factor for the development and progression of Parkinson’s disease. Most people who develop Parkinson’s disease are older than 60 years years of age.Young adults rarely experience Parkinson’s disease. It ordinarily begins in middle or late life, and the risk continues to increase with age.

*Heredity : Having a close relative with Parkinson’s increases the chances that you’ll also develop the disease, A small number of individuals are at increased risk because of a family history of the disorder. Although your risk is still no more than about 4 to 6 percent.

*Sex: Men are more likely to develop Parkinson’s disease than women are.Men are affected about 1.5 to 2 times more often than women.

*Exposure to toxins: Ongoing exposure to herbicides and pesticides puts you at slightly increased risk of Parkinson’s.Head trauma, illness, or exposure to environmental toxins such as pesticides and herbicides may be a risk factor.
Complications:
Parkinson’s disease is often accompanied by these additional problems:

*Depression:  Depression is common in people with Parkinson’s disease. Receiving treatment for depression can make it easier to handle the other challenges of Parkinson’s disease.

*Sleep problems:  People with Parkinson’s disease often have trouble falling asleep and may wake up frequently throughout the night. They may also experience sudden sleep onset, called sleep attacks, during the day.

*Difficulty chewing and swallowing:  The muscles you use to swallow may be affected in the later stages of the disease, making eating more difficult.

*Urinary problems:  Parkinson’s disease may cause either urinary incontinence or urine retention. Certain medications used to treat Parkinson’s also can make it difficult to urinate.

*Constipation: Many people with Parkinson’s disease develop constipation because the digestive tract works more slowly. Constipation may also be a side effect of medications used to treat the disease.

*Sexual dysfunction:  Some people with Parkinson’s disease may notice a decrease in sexual desire. This may stem from a combination of psychological and physical factors, or it may be the result of physical factors alone.Medications for Parkinson’s disease also may cause a number of complications, including involuntary twitching or jerking movements of the arms or legs, hallucinations, sleepiness, and a drop in blood pressure when standing up.

Diagnosis:
A physician will diagnose Parkinson’s disease from the medical history and a neurological examination.  There is no lab test that will clearly identify the disease, but brain scans are sometimes used to rule out disorders that could give rise to similar symptoms. Patients may be given levodopa and resulting relief of motor impairment tends to confirm diagnosis. The finding of Lewy bodies in the midbrain on autopsy is usually considered proof that the patient suffered from Parkinson’s disease. The progress of the illness over time may reveal it is not Parkinson’s disease, and some authorities recommend that the diagnosis be periodically reviewed.

Other causes that can secondarily produce a parkinsonian syndrome are Alzheimer’s disease, multiple cerebral infarction and drug-induced parkinsonism.  Parkinson plus syndromes such as progressive supranuclear palsy and multiple system atrophy must be ruled out.  Anti-Parkinson’s medications are typically less effective at controlling symptoms in Parkinson plus syndromes. Faster progression rates, early cognitive dysfunction or postural instability, minimal tremor or symmetry at onset may indicate a Parkinson plus disease rather than PD itself.  Genetic forms are usually classified as PD, although the terms familial Parkinson’s disease and familial parkinsonism are used for disease entities with an autosomal dominant or recessive pattern of inheritance.

Medical organizations have created diagnostic criteria to ease and standardize the diagnostic process, especially in the early stages of the disease. The most widely known criteria come from the UK Parkinson’s Disease Society Brain Bank and the US National Institute of Neurological Disorders and Stroke. The PD Society Brain Bank criteria require slowness of movement (bradykinesia) plus either rigidity, resting tremor, or postural instability. Other possible causes for these symptoms need to be ruled out. Finally, three or more of the following features are required during onset or evolution: unilateral onset, tremor at rest, progression in time, asymmetry of motor symptoms, response to levodopa for at least five years, clinical course of at least ten years and appearance of dyskinesias induced by the intake of excessive levodopa. Accuracy of diagnostic criteria evaluated at autopsy is 75–90%, with specialists such as neurologists having the highest rates.

Computed tomography (CT) and magnetic resonance imaging (MRI) brain scans of people with PD usually appear normal.  These techniques are nevertheless useful to rule out other diseases that can be secondary causes of parkinsonism, such as basal ganglia tumors, vascular pathology and hydrocephalus.  A specific technique of MRI, diffusion MRI, has been reported to be useful at discriminating between typical and atypical parkinsonism, although its exact diagnostic value is still under investigation. Dopaminergic function in the basal ganglia can be measured with different PET and SPECT radiotracers. Examples are ioflupane (123I) (trade name DaTSCAN) and iometopane (Dopascan) for SPECT or fludeoxyglucose (18F) for PET. A pattern of reduced dopaminergic activity in the basal ganglia can aid in diagnosing PD

Treatment :
There’s no cure for Parkinson’s disease although new research is just starting to suggest that some drugs already used for the condition do have some effect in holding back progression of the disease.

A lot can be done to relieve symptoms, especially in the early stages, by replacing the missing dopamine in the brain. This can be done very effectively with a drug called levodopa – a synthetic chemical that’s converted into dopamine in the brain. However, there can be severe side-effects with prolonged usage.

Because of these problems, doctors usually try to delay using levodopa, especially in younger people. Instead, they use other drugs that boost dopamine activity or mimic its effects, known as dopamine agonists. These drugs also have side-effects and doses have to be carefully tailored to each patient’s needs.

Another option for people with more advanced Parkinson’s is injections of a drug called apomorphine which can ‘rescue’ people from sudden ‘off’ periods (episodes of greatly reduced mobility).

This drug can also be given as a continuous infusion for those with severe movement fluctuations and reduces the dose of levodopa that a person requires.

Occupational therapists and physiotherapists help people manage their condition by assisting with movement and providing advice on how to maintain independence in everyday life. Speech and language therapists help with communication or swallowing difficulties.

Deep brain stimulation is a form of surgery that can be used to treat some of the symptoms of Parkinson’s. A wire with four electrodes at its tip is implanted in one of four target sites in the brain. Then a small unit, which generates electrical signals for the stimulation, is implanted into the person’s chest. When the stimulation is switched on, electrical signals are sent to the brain to stop or reduce the symptoms of Parkinson’s. It’s not suitable for everyone with Parkinson’s, but can provide significant improvement in symptoms and quality of life.

In the future, gene therapy and stem cell therapy may hold some possibility of more effective treatment of Parkinson’s disease.

YOU MAY CLICK & SEE  : Parkinson’s disease ‘may start in gut’

Lifestyle and home remedies:
If you’ve received a diagnosis of Parkinson’s disease, you’ll need to work closely with your doctor to find a treatment plan that offers you the greatest relief from symptoms with the fewest side effects. Certain lifestyle changes also may help make living with Parkinson’s disease easier.

Healthy eating
Eat a nutritionally balanced diet that contains plenty of fruits, vegetables and whole grains. These foods are high in fiber, which is important for helping prevent the constipation that is common in Parkinson’s disease. A balanced diet also provides nutrients, such as omega-3 fatty acids, that may be beneficial for people with Parkinson’s disease.

If you take a fiber supplement, such as psyllium powder, Metamucil or Citrucel, be sure to introduce it gradually and drink plenty of fluids daily. Otherwise, your constipation may become worse. If you find that fiber helps your symptoms, use it on a regular basis for the best results.

Walking with care
Parkinson’s disease can disturb your sense of balance, making it difficult to walk with a normal gait.

These suggestions may help:

*Try not to move too quickly.
*Aim for your heel to strike the floor first when you’re walking.
*If you notice yourself shuffling, stop and check your posture. It’s best to stand up straight.

Avoiding falls
In the later stages of the disease, you may fall more easily. In fact, you may be thrown off balance by just a small push or bump.

The following suggestions may help:

*Don’t pivot your body over your feet while turning. Instead, make a U-turn.
*Don’t lean or reach. Keep your center of gravity over your feet.
*Don’t carry things while walking.
*Avoid walking backward.

Dressing
Dressing can be the most frustrating of all activities for someone with Parkinson’s disease. The loss of fine motor control makes it hard to button and zip clothes, and even to step into a pair of pants. An occupational therapist can point out techniques that make daily activities easier.

These suggestions also may help:

*Allow plenty of time so that you don’t feel rushed.
*Lay clothes nearby.
*Choose clothes that you can slip on easily, such as sweat pants, simple dresses or pants with elastic waistbands.
*Use fabric fasteners, such as Velcro, instead of buttons.

Alternative Medications:
Forms of alternative medicine that may help people with Parkinson’s include:

*Coenzyme Q10. People with Parkinson’s disease tend to have low levels of coenzyme Q10, and some research has suggested it may be beneficial. However, subsequent research hasn’t confirmed this benefit. You can buy coenzyme Q10 without a prescription in drugstores and natural food stores. Talk with your doctor before taking this supplement to ensure that it won’t interfere with any medication you may be taking.

*Massage. Massage therapy can reduce muscle tension and promote relaxation, which may be especially helpful to people experiencing muscle rigidity associated with Parkinson’s disease. These services, however, are rarely covered by health insurance.

*Tai chi. An ancient form of Chinese exercise, tai chi employs slow, flowing motions that help improve flexibility and balance. Several forms of tai chi are tailored for people of any age or physical condition.

*Yoga. Yoga is another type of exercise that increases flexibility and balance. Most poses can be modified, depending on your physical abilities.

Prognosis:
PD invariably progresses with time. Motor symptoms, if not treated, advance aggressively in the early stages of the disease and more slowly later. Untreated, individuals are expected to lose independent ambulation after an average of eight years and be bedridden after ten years.  However, it is uncommon to find untreated people nowadays. Medication has improved the prognosis of motor symptoms, while at the same time it is a new source of disability because of the undesired effects of levodopa after years of use.   In people taking levodopa, the progression time of symptoms to a stage of high dependency from caregivers may be over 15 years.  However, it is hard to predict what course the disease will take for a given individual. Age is the best predictor of disease progression. The rate of motor decline is greater in those with less impairment at the time of diagnosis, while cognitive impairment is more frequent in those who are over 70 years of age at symptom onset.

Since current therapies improve motor symptoms, disability at present is mainly related to non-motor features of the disease.Nevertheless, the relationship between disease progression and disability is not linear. Disability is initially related to motor symptoms. As the disease advances, disability is more related to motor symptoms that do not respond adequately to medication, such as swallowing/speech difficulties, and gait/balance problems; and also to motor complications, which appear in up to 50% of individuals after 5 years of levodopa usage. Finally, after ten years most people with the disease have autonomic disturbances, sleep problems, mood alterations and cognitive decline. All of these symptoms, especially cognitive decline, greatly increase disability.

The life expectancy of people with PD is reduced. Mortality ratios are around twice those of unaffected people. Cognitive decline and dementia, old age at onset, a more advanced disease state and presence of swallowing problems are all mortality risk factors. On the other hand a disease pattern mainly characterized by tremor as opposed to rigidity predicts an improved survival. Death from aspiration pneumonia is twice as common in individuals with PD as in the healthy population

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/parkinsons1.shtml
http://en.wikipedia.org/wiki/Parkinson’s_disease
http://www.medicinenet.com/parkinsons_disease/article.htm
http://en.wikipedia.org/wiki/Parkinson’s_disease
http://www.mayoclinic.com/health/parkinsons-disease/DS00295

Gaucher’s disease

Alternative Names:  Glucocerebrosidase deficiency; Glucosylceramidase deficiency

Definition:
Gaucher’s disease is a very rare genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs. Gaucher’s disease is the most common of the lysosomal storage diseases:536 It is caused by a hereditary deficiency of the enzyme glucocerebrosidase . The enzyme acts on a fatty substance glucocerebroside (also known as glucosylceramide). When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells (mononuclear leukocytes). Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain and bone marrow….CLICK & SEE THE PICTURES

Symptoms may include enlarged spleen and liver, liver malfunction, skeletal disorders and bone lesions that may be painful, severe neurologic complications, swelling of lymph nodes and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, low blood platelets and yellow fatty deposits on the white of the eye (sclera). Persons affected most seriously may also be more susceptible to infection. Some forms of Gaucher’s disease may be treated with enzyme replacement therapy.
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The disease is caused by a recessive mutation in a gene located on chromosome 1 and affects both males and females. About 1 in 100 people in the United States are carriers of the most common type of Gaucher disease, while the carrier rate among Ashkenazi Jews is 8.9% while the birth incidence is 1 in 450.

The disease is named after the French doctor Philippe Gaucher, who originally described it in 1882 and lent his name to the condition.The biochemical basis for the disease would be elucidated in 1965.

Gaucher’s disease can occur at any age. It’s most common in Eastern and Central European (Ashkenazi) Jewish people.The National Gaucher Foundation states that around 1 in 100 people in the general U.S. population is a carrier for type 1 Gaucher’s disease, giving a prevalence of 1 in 40,000: among Ashkenazi Jews the rate of carriers is considerably higher, at roughly 1 in 15.

Type 2 Gaucher’s disease shows no particular preference for any ethnic group. Type 3 Gaucher’s disease is especially common in the population of the Northern Swedish region of Norrbotten where the incidence of the disease is 1 in 50,000.

Symptoms:
Signs and symptoms of Gaucher’s disease can vary widely from one person to another, particularly among different types of the disease.

The major types of Gaucher’s disease and associated symptoms are:

Type 1. This form of the disease is the most common and is generally the most mild. Type 1 accounts for about 90 percent of cases. In this form of the disease, there’s usually no damage to the brain. This type can occur at any age, although it’s most prevalent in adults, with an average age of 30 at the time of diagnosis. Possible signs and symptoms of type 1 Gaucher’s disease include:
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*Skeletal abnormalities, including thinning of your bones (osteopenia), bone pain and bone fractures
*Enlarged liver (hepatomegaly) or spleen (splenomegaly), or both
*A decrease in healthy red blood cells (anemia)
*Excessive fatigue
*A greater susceptibility to bruising, which may mean you have a low number of blood platelets (thrombocytopenia)
*Yellow spots in your eyes (pingueculae)
*Delayed puberty
*Nosebleeds

Type 2. This form of Gaucher’s disease is rare and much more severe than the other types. It begins during the first year of life, often developing by 3 months. These babies have brain damage that is extensive and progresses rapidly. In addition to the signs and symptoms listed above, other possible problems that may occur with this type of Gaucher’s include:
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*Cognitive deterioration, including mental retardation or dementia
*Rigidity
*Seizures

Type 3. This form of Gaucher’s disease, also rare, usually begins in childhood or adolescence. It tends to be chronic and progresses more slowly than does type 2.
Although the brain is affected, brain involvement tends to be milder than in type 2. Signs and symptoms, such as enlargement of the liver and spleen, tend to vary more in intensity than in type 2. Signs and symptoms that may occur more in type 3 than in type 1 include:

*Cognitive deterioration, including mental retardation or dementia
*Abnormal eye movements
*Loss of muscle coordination

Causes:
The disease is caused by a defect in the housekeeping gene lysosomal gluco-cerebrosidase (also known as beta-glucosidase, EC 3.2.1.45, PDB 1OGS) on the first chromosome (1q21). The enzyme is a 55.6 KD, 497 amino acids long protein that catalyses the breakdown of glucocerebroside, a cell membrane constituent of red and white blood cells. The macrophages that clear these cells are unable to eliminate the waste product, which accumulates in fibrils, and turn into Gaucher cells, which appear on light microscopy to resemble crumpled-up paper.

In the brain (type II and III), glucocerebroside accumulates due to the turnover of complex lipids during brain development and the formation of the myelin sheath of nerves.

Different mutations in the beta-glucosidase determine the remaining activity of the enzyme, and, to a large extent, the phenotype.

Risk Factors:
The risk of having type 1 or 3 Gaucher’s disease or being a carrier is higher if you’re of Eastern or Central European (Ashkenazi) Jewish ancestry. Type 2 is more common in people of Swedish descent.

A family history of any type of Gaucher’s disease increases the risk of being either a carrier of Gaucher’s or of developing the disease.

Heterozygotes for particular acid beta-glucosidase mutations carry about a fivefold risk of developing Parkinson’s disease, making this the most common known genetic risk-factor for Parkinson’s. A study of 1525 Gaucher patients in the United States suggested that while cancer risk is not elevated, particular malignancies (non-Hodgkin lymphoma, melanoma and pancreatic cancer) occurred at a 2-3 times higher rate

Complecations:
Complications of all types
Possible complications of all types of Gaucher’s disease include:

*Bone pain, which can become severe and incapacitating and may be associated with fractures.

*A tendency to bleed, which may result in repeated hemorrhaging in the nostrils or nasal cavities, or bruising beneath the skin (ecchymosis).

*An increased risk of certain cancers. Older people with Gaucher’s disease may have an increased likelihood of developing certain types of cancer, particularly multiple myeloma — uncontrolled multiplication of plasma cells.

Complications of type 2
Complications that are more likely to occur in people with type 2 Gaucher’s disease often include serious neurological complications, such as:

*Seizures
*Abnormal gait
*Swallowing problems

As these problems progress and become more severe, they can become debilitating and lead to death.

Complications of type 3
People with type 3 Gaucher’s disease are more likely to develop calcification of heart valves, which damages the valves and makes it increasingly difficult for them to open fully and function properly.

Diagnosis:
A definitive diagnosis is made with genetic testing. As there are numerous different mutations, sequencing of the beta-glucosidase gene is sometimes necessary to confirm the diagnosis. Prenatal diagnosis is available, and is useful when there is a known genetic risk factor.

A diagnosis can also be implied by biochemical abnormalities such as high alkaline phosphatase, angiotensin-converting enzyme (ACE) and immunoglobulin levels, or by cell analysis showing “crinkled paper” cytoplasm and glycolipid-laden macrophages.

Some lysosomal enzymes are elevated, including tartrate-resistant acid phosphatase, hexosaminidase, and a human chitinase, chitotriosidase. This latter enzyme has proved to be very useful for monitoring Gaucher’s disease activity in response to treatment, and may reflect the severity of the disease

Treatment:
For type 1 and most type 3 patients, enzyme replacement treatment with intravenous recombinant glucocerebrosidase (imiglucerase) can dramatically decrease liver and spleen size, reduce skeletal abnormalities, and reverse other manifestations. This treatment costs approximately $200,000 annually for a single patient and should be continued for life. The rarity of the disease means that dose-finding studies have been difficult to conduct, so there remains controversy over the optimal dose and dosing frequency. Due to the low incidence, this has become an orphan drug in many countries, meaning that a government recognizes and accommodates the financial constraints that limit research into drugs that address a small population.Velaglucerase alfa was approved by the Food and Drug Administration (FDA) as an alternative treatment on February 26, 2010.

Successful bone marrow transplantation cures the non-neurological manifestations of the disease, because it introduces a monocyte population with active beta-glucosidase. However, this procedure carries significant risk and is rarely performed in Gaucher patients. Surgery to remove the spleen (splenectomy) may be required on rare occasions if the patient is anemic or when the enlarged organ affects the patient’s comfort. Blood transfusion may benefit some anemic patients. Other patients may require joint replacement surgery to improve mobility and quality of life. Other treatment options include antibiotics for infections, antiepileptics for seizures, bisphosphonates for bone lesions, and liver transplants. Substrate reduction therapy may prove to be effective in stopping Type 2, as it can cross through the blood barrier into the brain. There is currently no effective treatment for the severe brain damage that may occur in patients with types 2 and 3 Gaucher disease. Gene therapy may be a future step.

The first effective treatment for the disease, the drug Ceredase, was approved by the FDA in April 1991. An improved drug, Cerezyme, was approved by the FDA in May 1994 and has replaced the use of Ceredase.

Gaucher’s disease has recently become a target for more than one effort at pharmacological chaperoning, which involves the use of orally administered drugs that operate at a molecular level. Miglustat is one of these oral drugs. It was approved for the treatment of this disease in 2003. As of June 2009[update], another oral drug, isofagomine tartrate, is under development.

prognosis:
How well a person does depends on the subtype of the disease. The infantile form of Gaucher disease may lead to early death. Most affected children die before age 5.

Adults with the type 1 form of the disease can expect normal life expectancy with enzyme replacement therapy.

Prevention:
Genetic counseling is recommended for prospective parents with a family history of Gaucher disease. Testing can determine if parents carry the gene that could pass on the Gaucher disease. A prenatal test can also tell if the fetus has Gaucher syndrome.

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/gauchers1.shtml
http://en.wikipedia.org/wiki/Gaucher’s_disease
http://www.mayoclinic.com/health/gauchers-disease/DS00972

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http://acherishedangel.com/
http://checkorphan.getreelhealth.com/grid/iwishes/gauchers-disease-type-2-or-type-3
http://www.nationwidechildrens.org/gaucher-disease