Categories
Ailmemts & Remedies

Repetitive strain injury(RSI)

Alternative Names:Repetitive stress injury, Repetitive motion injuries, Repetitive motion disorder (RMD), Cumulative trauma disorder (CT), Occupational overuse syndrome, Overuse syndrome, Regional musculoskeletal disorder

Definition:

Repetitive strain injury (RSI)  is an injury of the musculoskeletal and nervous systems that may be caused by repetitive tasks, forceful exertions, vibrations, mechanical compression (pressing against hard surfaces), or sustained or awkward positions.

The term “repetitive strain injury” is most commonly used to refer to patients in whom there is no discrete, objective, pathophysiology that corresponds with the pain complaints. It may also be used as an umbrella term incorporating other discrete diagnoses that have (intuitively but often without proof) been associated with activity-related arm pain such as carpal tunnel syndrome, cubital tunnel syndrome, thoracic outlet syndrome, DeQuervain’s syndrome, stenosing tenosynovitis/trigger finger/thumb, intersection syndrome, golfer’s elbow (medial epicondylosis), tennis elbow (lateral epicondylosis), and focal dystonia.

click to see pictures…..(0)....(1).…...(2)….….(3)

Finally RSI is also used as an alternative or an umbrella term for other non-specific illnesses or general terms defined in part by unverifiable pathology such as reflex sympathetic dystrophy syndrome (RSDS), Blackberry thumb, disputed thoracic outlet syndrome, radial tunnel syndrome, “gamer’s thumb” (a slight swelling of the thumb caused by excessive use of a gamepad), “Rubik’s wrist” or “cuber’s thumb” (tendinitis, carpal tunnel syndrome, or other ailments associated with repetitive use of a Rubik’s Cube for speedcubing), “stylus finger” (swelling of the hand caused by repetitive use of mobile devices and mobile device testing.), “raver’s wrist”, caused by repeated rotation of the hands for many hours (for example while holding glow sticks during a rave).

Although tendinitis and tenosynovitis are discrete pathophysiological processes, one must be careful because they are also terms that doctors often use to refer to non-specific or medically unexplained pain, which they theorize may be caused by the aforementioned processes.

Doctors have also begun making a distinction between tendinitis and tendinosis in RSI injuries. There are significant differences in treatment between the two, for instance in the use of anti-inflammatory medicines, but they often present similar symptoms at first glance and so can easily be confused.

Types of RSIs that affect computer users may include non-specific arm pain or work related upper limb disorder (WRULD). Conditions such as RSI tend to be associated with both physical and psychosocial stressors.

Symptoms:

The following complaints are typical in patients who might receive a diagnosis of RSI:

*Short bursts of excruciating pain in the arm, back, shoulders, wrists, hands, or thumbs (typically diffuse – i.e. spread over many areas).

*The pain is worse with activity.

*Weakness, lack of endurance.

In contrast to carpal tunnel syndrome, the symptoms tend to be diffuse and non-anatomical, crossing the distribution of nerves, tendons, etc. They tend not to be characteristic of any discrete pathological condition.

1.The users experience constant pain in the hands, elbows, shoulders, neck, and the back. Other symptoms of Repetitive Stain Injury are cramps, tingling, and numbness in the hands. The hand movements of the user may become clumsy and the person may find it difficult even to fasten buttons.

2.Another variant of Repetitive Strain Injury is that, it may produce painful symptoms in the upper limbs, but the site may be difficult to locate.

3.The common diagnoses seen in Repetitive Strain Injury are Carpal Tunnel Syndrome, Tenosynovitis, Bursitis, White Limb, and Shoulder pain. A major cause is due to long unbroken periods of work. Ergonomics or the lack of it plays a very important role. Lack of information about the condition leads to neglect by the concerned individuals.

Frequency :A 2008 study showed that 68% of UK workers suffered from some sort of RSI, with the most common problem areas being the back, shoulders, wrists, and hands.

Physical examination and diagnostic testing; The physical examination discloses only tenderness and diminished performance on effort-based tests such as grip and pinch strength—no other objective abnormalities are present. Diagnostic tests (radiological, electrophysiological, etc.) are normal. In short, RSI is best understood as an apparently healthy arm that hurts. Whether there is currently undetectable damage remains to be established.

Causes:

RSI is believed by many to be caused due to lifestyle without ergonomic care,  E.g. While working in front of computers, driving, traveling etc. Simple reasons like ‘Using a blunt knife for everyday chopping of vegetables’, may cause RSI.

Repetitive Strain Injury occurs when the movable parts of the limbs are injured. Repetitive Strain Injury usually caused due to repetitive tasks, incorrect posture, stress and bad ergonomics. Repetitive Strain Injury generally causes numbness, tingling, weakness, stiffing, and swelling and even nerve damage. The chief complaint is the constant pain in the upper limbs, neck, shoulder and back.

The main cause of this main are the repetitive activities, forceful activities of arms and hand and awkward postures. The other causes of Repetitive Strain Injuries are sitting in a fixed posture and poor workplace ergonomics.

Other typical habits that some sources believe lead to RSI

*Reading or doing tasks for extended periods of time while looking down.

*Sleeping on an inadequate bed/mattress or sitting in a bad armchair and/or in an uncomfortable position.

*Carrying heavy items.

*Holding one’s phone between neck and shoulder.

*Watching TV in incorrect position e.g. Too much to the left/right.

*Sleeping with head forward, while traveling.

*Prolonged use of the hands, wrists, back, neck, etc.

*Sitting in the same position for a long period of time.

Diagnosis:

Repetitive task and stress affects the body parts causes RSI. An instance of this is using a screwdriver, if you keep using the screwdriver without a break, you feel your wrist become restricted and you feel pain and you may also experience the loss of movement. This is the initial stage of RSI.

RSI, or should we say the group of syndromes that make up repetitive strain injury only affects the back, neck and arms. A lot of people without even realizing may suffer with RSI.

You may have had pains in your wrists or arms that you explained as being tired if you are working on an assembly line or you’re an avid musician who can’t put their guitar down. These pains are more than likely the initial RSI symptoms.

Judging the Symptom:

The problem in diagnosing repetitive strain injury is the fact that is can be hard to judge the symptoms, after all RSI is just a name given to a group of different conditions that are all related in some way to the affects we attribute to RSI.

Not only do we have this issue, we also have the problem that some of the symptoms related with repetitive strain injury are found in other, more dangerous conditions such as angina.

Even though RSI only affects the upper torso and limbs, the symptoms can in fact appear in the lower half of the body; this is due to the vertebral nerves that can be affected in some cases so the pains appear in the legs.

Carpal Tunnel Syndrome:

Carpal tunnel syndrome is the most common out of all the syndromes that make up the condition called RSI.

Carpal tunnel syndrome is a condition that affects the median nerve situated in the carpal canal in the wrist, when the same movement is carried out frequently it can cause the tendons also situated in the carpal canal to become inflamed and compress the nerve causing pain and tightness causing loss of movement.

The most famous out of all the syndromes that make up repetitive stress injury is carpal tunnel syndrome because it affects a lot of people who spend long periods on the computer without supporting their wrists appropriately.

Other Conditions:

There are some conditions that the every day layman may be aware of golfers elbow, which is called medial epicondylitis, or like tennis elbow, which is officially called lateral epicondylitis.

You should visit your doctor if you suffer with pains, aches, stiffness, numbness or tingling sensations in your back, arms, wrists or hands. While RSI is not life threatening it can affect you more than you think.

Eventually without visiting a medical professional the symptoms can become ever worse, or you may even find the RSI could be something more risky. Learn more about ergonomics at safecomputingtips.com.

Treatment :
Most common and simple measure of treatment, which is more common sense than anything is painkillers and anti inflammatory pills, these are available over the counter at any good pharmacy.When taking painkillers and anti inflammatory pills it is important that you rest the affected area, just because the pain is not there it doesn’t mean the condition has instantly been resolved.Another simple measure is speaking to your employer, you may find they have guidelines to work towards that may mean you can get some support in alleviating your condition. This means your work place may be assessed and improvements implemented.You can get a simple support bandage from your local pharmacy to help add strength to the affected area, if it is your wrist or arm. You may need to purchase a special keyboard and/or mouse or get speech recognition software in order to prevent further irritation to your injury.Speech recognition software is a great alternative for those who suffer due to computer work, speech recognition software works by the software writing what you say for you.Your medical professional might possibly prescribe that you wear an orthopedic hand brace. You don’t want to wear one of these if your doctor doesn’t. it because it could lead to further injury.Therapy:Your doctor may prescribe physical therapy, a physical therapists role is to develop and maximize the movement of the body, and this can also include the provision of aids to alleviate symptoms.

Another prescribed therapy your doctor may request is occupational therapy, it may sound like occupational therapy and physical therapy are very similar but there are differences.

Occupational therapy helps develop and maintain the skills required to carry out all the general functions needed to live a comfortable life.

Occupational therapy includes assessing what a persons requirements are and supporting them with offering recommendations on adapting to their living or working space and offering simple exercises to regain movement.

Alternative Treatment:

Deep body massages have been reported to work wonders for those suffering with repetitive strain injury as it works deep into the body’s soft tissues like the muscles and tendons where the pain comes from.

Soft tissue therapy is a type of therapy that works by decompressing the area surrounding the RSI. This will increase your circulation and aid in healing. They may also try biofeedback. This is generally used to reduce tension in the muscles in your shoulders and neck.

Some people have reported that slow martial arts like Tai Chi can have a dramatic affect on their condition because they work on specific movements and improve strength and flexibility.

Surjury:

As a last resort, the medical professional might recommend to have surgery. one should keep in mind that it doesn’t always work and he or she  will be left without the use of one’s hand and arm for a long time. The above treatment methods have been proven to help heal even the worst types of RSI disorders when they are done correctly.

You may click to see the using of modern ergonomics in home office

Exercise:

Exercise decreases the risk of developing RSI.

*Doctors sometimes recommend that RSI sufferers engage in specific strengthening exercises, for example to improve posture.

*In light of the fact that a lifestyle that involves sitting at a computer for extended periods of time increases the probability that an individual will develop excessive kyphosis, theoretically the same exercises that are prescribed for thoracic outlet syndrome or kyphotic postural correction would benefit an RSI sufferer.

*Some sources[who?] recommend motoric exercises and ergo-aerobics to decrease chances of strain injury. Ergo-aerobics target touch typists and people who often use computer keyboard.

Resuming normal activities despite the pain:

Psychologists Tobias Lundgren and Joanne Dahl have asserted that, for the most difficult chronic RSI cases, the pain itself becomes less of a problem than the disruption to the patient’s life caused by

*avoidance of pain-causing activities

*the amount of time spent on treatment

They claim greater success from teaching patients psychological strategies for accepting the pain as an ongoing fact of life, enabling them to cautiously resume many day-to-day activities and focus on aspects of life other than RSI

Psychosocial factors:

Studies have related RSI and other upper extremity complaints with psychological and social factors. A large amount of psychological distress showed doubled risk of the reported pain, while job demands, poor support from colleagues, and work dissatisfaction also showed an increase in pain, even after short term exposure.

For example, the association of Carpal tunnel syndrome with arm use is commonly assumed but not well-established. Typing has long been thought to be the cause of carpal tunnel syndrome, but recent evidence suggests that, if anything, typing may be protective. Another study claimed that the primary risk factors for Carpal tunnel syndrome were “being a woman of menopausal age, obesity or lack of fitness, diabetes or having a family history of diabetes, osteoarthritis of the carpometacarpal joint of the thumb, smoking, and lifetime alcohol intake.
Prevention:
Risk of RSI can be reduced a lot by warming up and cooling down the muscles used, taking regular breaks throughout the day, having an appropriate workstation and seating position, and practising relaxation. If the job puts one  at risk of RSI he or she should seek out expert advice on prevention from your employer or professional body.

Repetitive Stress Injury symptoms when found, people should seek medical attention as early as possible. Measures that can be adopted to avoid Repetitive Stress Injury at an individual level include:
Position: The recommended position to sit in front of a computer is semi-reclined with the forearms resting in a cradle or on an extension of the keyboard support to prevent Repetitive Stress Injury.

There should be ample support for the back. The hands should be free and point in the direction of the forearms. The feet should rest on the ground or feet support. The distance of the monitor should be 18 inches or more and at a slightly lower level than the eye level. Using these measures Repetitive Stress Injury caused out of position can be avoided.

Hydration: The Repetitive Stress Injury can be prevented by drinking adequate fluids to keep the tendons and soft- tissues soft.

Shortcuts: Using keyboard shortcuts and less of mouse is the most effective preventive method to avoid Repetitive Stress Injury. Touch the ergonomic keyboard softly and do not pound at it. The wrist should rest on the table or wrist rest.

Telephone use: Don’t cradle the telephone between the face and shoulder while working, as this can lead to neck strain.

Messages: Don’t use the computer while conveying messages in person or through the intercom.

No games:One of the main Causes of Repetitive Stress Injury is Games. Games or surfing at work may increase stress on your hands. So games should be avoided.

Preventive Measures at the Organizational Level for Repetitive Stress injury :
Organizations that use computers in a big way can also adopt certain preventive measures for avoiding Repetitive Strain Injury to their employees. These include:

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1.You need to educate your employees on the importance of adopting a proper posture which is one of the main cause of Repetitive Stress Injury.
2.Ensure that all your employees are using quality ergonomic furniture that will save loss of working hours by guaranteeing full comfort of the employees.
3.Give periodic reminders through lectures and audio-visual presentations by medical professionals on the importance of taking good care of health while using computers and Repetitive Stress Injury.
4.Try to avoid computer as much as possible: use voicemail instead of sending e-mail. Go for a walk or watch a movie instead of playing video games. Its better go for a book instead of searching the Web. You are in the danger zone for Repetitve Stress Injury if you are using a computer for as little as two hours a day.
5.Adjust your workstation properly. Make sure your monitor is directly in front of you, with the top of the screen at eye level. Be sure your keyboard (Ergonomic Keyboard) and mouse (Ergonomic Mouse) are low enough to allow you to relax your shoulders.
6.Sit up straight. Make sure your chair supports your spine in an erect position as it is the one of the main causes of Repetitive Stress Injury.
7.Practice proper technique: never rest your wrists on the desk, wrist pad or armrests while you are typing or using a mouse or trackball.
8.Pace yourself. Take a 5-to-10 minute break every 20 minutes and limit your overall time at the computer.
9.Get regular cardiovascular exercise.
10.Do appropriate upper-body strengthening and stretching exercises.
11.Stretch frequently while at the computer.
12.Do not work at the computer or other hand-intensive activities if you are experiencing pain, fatigue or soreness.
13.Avoid using the mouse and trackball whenever possible. Use keystrokes instead for preventing Repetitive Stress Injury.
14.When symptoms of Repetitive Stress Injury are set in, consult an orthopedic surgeon. If you find of the symptoms of Repetitive Stress Injury mentioned above, do not make the diagnosis yourself. The diagnosis will be made from the history and clinical findings as there will be no changes in X-rays, since the soft tissues are involved.

Nerve conduction studies can confirm the diagnosis. In cases detected earlier, attention to ergonomics will restore normalcy.
In cases of Repetitive Stress Injury when diagnosed late, orthopedic treatment like injections and even minor surgery may be necessary.

You may click to see this page for more knowledge

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.

Related articles

Resources:

English: Untreated Carpal Tunnel Syndrome
Image via Wikipedia

http://en.wikipedia.org/wiki/Repetitive_strain_injury
http://www.safecomputingtips.com/rsi-diagnosis.html
http://www.bbc.co.uk/health/physical_health/conditions/repetitivestrain1.shtml
http://www.rsiwarrior.com/ergonomics.html
http://www.hoverstop.com/eng/rsi.php

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Categories
Ailmemts & Remedies

Neurofibromatosis

Definition:
Neurofibromatosis (commonly abbreviated NF; neurofibromatosis type 1 is also known as von Recklinghausen disease) is a genetically-inherited disorder in which the nerve tissue grows tumors (i.e., neurofibromas) that may be benign or may cause serious damage by compressing nerves and other tissues. The disorder affects all neural crest cells (Schwann cells, melanocytes and endoneurial fibroblasts). Cellular elements from these cell types proliferate excessively throughout the body, forming tumors; melanocytes also function abnormally in this disease, resulting in disordered skin pigmentation and “cafe-au-lait” spots. The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems.
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CLICK TO SEE THE PICTURES
Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop. Therefore, if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The severity in affected individuals can vary, this may be due to variable expressivity. Approximately half of cases are due to de novo mutations and no other affected family members are seen. It affects males and females equally.

Symptoms:
Three distinct types of neurofibromatosis exist, each with different signs and symptoms.
Neurofibromatosis type 1 (also known as “von Recklinghausen disease”) is the most common form of NF, accounting for up to 90% of the cases. NF 1 has a disorder frequency of 1 in 4,000, making it more common than neurofibromatosis type 2, with a frequency of 1 in 45,000 people. It occurs following the mutation of neurofibromin on chromosome 17q11.2. 100,000 Americans have neurofibromatosis. Neurofibromin is a tumor suppressor gene whose function is to inhibit the p21 ras oncoprotein. In absence of this tumor suppressor’s inhibitory control on the ras oncoprotein, cellular proliferation is erratic and uncontrolled, resulting in unbalanced cellular proliferation and tumor development. The diagnosis of NF1 is made if any two of the following seven criteria are met:

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Plexiform neurofibroma on the neck of a patient; plexiform neurofibromas are a cause of morbidity in the affected individuals.

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Patient with multiple small cutaneous neurofibromas and a ‘café au lait spot’ (bottom of photo, to the right of centre). A biopsy has been taken of one of the lesions.

*Two or more neurofibromas on or under the skin, or one plexiform neurofibroma (a large cluster of tumors involving multiple nerves); neurofibromas are the subcutaneous bumps characteristic of the disease, and increase in number with age.

*Freckling of the groin or the axilla (arm pit).

*Café au lait spots (pigmented, light brown macules located on nerves, with smooth edged, “coast of California” birthmarks).
*Six or more measuring 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals.

*Skeletal abnormalities, such as sphenoid dysplasia or thinning of the cortex of the long bones of the body (i.e. bones of the leg, potentially resulting in bowing of the legs)

*Lisch nodules (hamartomas of iris), freckling in the iris

*Tumors on the optic nerve, also known as an optic glioma

*Macrocephaly in 30-50% of the pediatric population without any hydrocephalus

*Epilepsy (seizures)

*Juvenile posterior lenticular opacity

NF 1 also increases the risk of tumor development, particularly, meningiomas, gliomas and pheochromocytomas.

Neurofibromatosis type 2 (NF 2):……..CLICK & SEE
Neurofibromatosis type 2 (also called “central neurofibromatosis” is the result of mutation of the merlin (also known as “schwannomin”[1]) in chromosome 22q12. It accounts for only 10% of all cases of NF, and its frequency is lower than NF1. It is also caused by a mutation in a tumor suppressor gene NF2 (whose gene product is schwannomin or merlin). The normal function of merlin is not well understood.  The disorder manifests in the following fashion:

*bilateral acoustic neuromas (tumors of the vestibulocochlear nerve or cranial nerve 8 (CN VIII) also known as schwannoma), often leading to hearing loss. In fact, the hallmark of NF 2 is hearing loss due to acoustic neuromas around the age of twenty.

*The tumors may cause:
…#headaches
…#balance problems, and peripheral vertigo often due to schwannoma and involvement of the inner ear
…#facial weakness/paralysis due to involvement or compression of the facial nerve (cranial nerve 7 or CN VII)
…#patients with NF2 may also develop other brain tumors, as well as spinal tumors.
…#deafness and tinnitus

NF 2 increases the risk of meningiomas and ependymomas

Schwannomatosis:
1.Multiple schwannomas occur.
2.The schwannomas develop on cranial, spinal and peripheral nerves.
3.Chronic pain, and sometimes numbness, tingling and weakness
4.About 1/3 of patients have segmental schwannomatosis, which means the schwannomas are limited to a single part of the body, such as an arm, a leg or the spine.
5.Unlike the other forms of NF, the schwannomas do not develop on vestibular nerves, and as a result, no loss of hearing is associated with schwannomatosis.
6.Patients with schwannomatosis do not have learning disabilities related to the disorder.

One must keep in mind, however, that neurofibromatosis can occur in or affect any of the organ systems, whether that entails simply compressing them (from tumor growth) or in fact altering the organs in some fundamental way. This disparity in the disorder is one of many factors that makes it difficult to diagnose, and eventually find a prognosis for.

Patients with neurofibromatosis can be affected in many different ways. Morbidity is often a result of plexiform neuromas, optic gliomas, or acoustic neuromas, but mortality can also be associated with malignant transformation of the neuromas, such as neurofibrosarcomas (often there is a malignant transformation in less than 3% of the cases of NF1). There is a high incidence of learning disabilities or cognitive deficit  in patients with NF, particularly NF-1, however severe retardation is not part of the syndrome. Because of the tumor generating nature of the disorder and its involvement of the nervous system and also because of early onset macrocephaly in the pediatric population, there is often an increased chance of development of epilepsy in those affected. Neurofibromatosis also increases the risk of leukemia particularly in children; Children with NF-1 have 200 to 500 times the normal risk of developing leukemia compared to the general population. Since the tumors grow where there are nerves, they can also grow in areas that are visible, causing considerable social suffering for those affected. The tumors can also grow in places that can cause other medical issues that may require them to be removed for the patient’s safety. Affected individuals may need multiple surgeries (such as reduction surgery, or Gamma knife surgery), depending on where the tumors are located. For instance, those affected with NF 2 might benefit from a surgical decompression of the vestibular tumors to prevent deafness

Causes:
What causes neurofibromatosis has yet to be fully explained, but it appears to be mostly due to genetic defects (mutations) that either are passed on by a parent or occur spontaneously at conception. Each form of neurofibromatosis is caused by mutations in different genes.

Neurofibromatosis 1 (NF1)
The NF1 gene is located on chromosome 17. Normally, this gene produces a protein called neurofibromin, which is abundant in nervous system tissue and helps regulate cell growth. A mutation of the NF1 gene causes a loss of neurofibromin, which allows cells to grow uncontrolled. This results in the tumors characteristic of NF1.

Neurofibromatosis 2 (NF2)
A similar problem occurs with NF2. The NF2 gene is located on chromosome 22, which produces a protein called merlin. A mutation of the NF2 gene causes loss of merlin, which also leads to uncontrolled cell growth.

Schwannomatosis
Because schwannomatosis has only recently been identified as a separate type of neurofibromatosis, its exact cause is still under scrutiny. In a small number of familial cases, it’s been associated with a mutation of the SMARCB1/INI1 gene, but in most cases the cause is unknown. The occurrence of schwannomatosis is more spontaneous (sporadic) than inherited.

Risk Factors:
The biggest risk factor for neurofibromatosis is a family history of the disorder. About half of NF1 and NF2 cases are inherited. The remaining cases result from spontaneous mutations that occur at conception.

NF1 and NF2 are both autosomal dominant disorders, which means that any child of a parent with the disorder has a 50 percent chance of inheriting the genetic mutation.

The inheritance pattern for schwannomatosis is less clear. Researchers currently estimate that the risk of inheriting schwannomatosis from an affected parent is around 15 percent.
Complications:
Complications of neurofibromatosis vary, even within the same family. Generally, complications result from tumor growth distorting nerve tissue or pressing on internal organs.

It’s not possible to predict how the disease will progress in any one individual but most people with neurofibromatosis experience a mild or moderate form of the disorder, regardless of type. Usually, serious complications develop prior to adolescence.

Neurofibromatosis 1 (NF1)
Common complications of NF1 include:

*Neurological problems. Learning difficulties occur in up to 60 percent of NF1 cases and are the most common neurological problem associated with NF1. Uncommon neurological complications associated with NF1 include epilepsy, stroke and buildup of excess fluid in the brain (hydrocephalus).

*Concerns with appearance. Visible signs of neurofibromatosis — such as extensive cafe au lait spots, nerve tumors (neurofibromas) in the facial area or large neurofibromas — can cause anxiety and emotional distress, even if not medically serious.

*Skeletal problems. Some children have abnormally formed bones, which can result in curvature of the spine (scoliosis) and bowed legs. NF1 is also associated with decreased bone mineral density, which increases your risk of weak bones (osteoporosis).

*Visual difficulties. Occasionally in children, a tumor growing on the nerve leading from the eye to the brain (optic nerve) can cause visual problems.

* Increase in neurofibromas. Hormonal changes associated with puberty, pregnancy or menopause may cause an increase in neurofibromas. Most women with NF1 have healthy pregnancies but will likely need to be monitored by an obstetrician familiar with NF1, in addition to her NF1 specialist.

*Cardiovascular problems. People with NF1 have an increased risk of high blood pressure and, rarely, blood vessel abnormalities.

*Cancer. Less than 10 percent of people with NF1 develop cancerous (malignant) tumors. These usually arise from neurofibromas under the skin or plexiform neurofibromas involving multiple nerves. Monitor neurofibromas vigilantly for any change in appearance, size or number. Changes may indicate cancerous growth. The earlier a malignancy is detected, the better the chances for effective treatment. People with NF1 also have a higher risk of other forms of cancer, such as breast cancer, leukemia, brain tumors and some types of soft tissue cancer.

Neurofibromatosis 2 (NF2)
Expanding tumors in people with NF2 may cause:

*Partial or total deafness

*Facial nerve damage

*Visual difficulties

*Weakness or numbness in the extremities

*Multiple benign brain tumors (meningiomas) requiring frequent surgeries

Schwannomatosis complications
The pain caused by schwannomatosis can be debilitating and may require surgical treatment or management by a pain specialist.
Diagnosis:
Prenatal testing

Embryo:
For embryos produced via in vitro fertilisation, it is possible via preimplantation genetic diagnosis (PGD) to screen for NF-1.

“PGD has about 95-98% accuracy but requires that the partner with NF2 have a recognizeable genetic mutation, which is only the case for about 60% of people with a clinical diagnosis of NF2. Having the initial genetic testing to determine if the mutation is recognizeable takes approximately 6 months, and then preparing the probes for the PDG testing takes approximately another 6 months.”

PGD can not be used to detect Schwannomatosis?, because the gene for it has not yet been identified.

Foetus:
Chorionic villus sampling or amniocentesis can be used:

*To detect Neurofibromatosis type I?.

*To detect Neurofibromatosis type II? with 95% accuracy.

*Can not be used to detect Schwannomatosis?, because the gene for it has not yet been identified.

Related disorders:
Neurofibromatosis is considered a member of the neurocutaneous syndromes (phakomatoses). In addition to the types of neurofibromatosis, the phakomatoses also include tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood.

Genetics:
Neurofibromatosis type 1 is caused by mutation on chromosome 17q11.2 , the gene product being neurofibromin (a regulator of the GTPase activating enzyme (GAP)). Neurofibromatosis type 2 is due to mutation on chromosome 22q, the gene product is merlin, a cytoskeletal protein.

Both NF-1 and NF-2 are autosomal dominant disorders, meaning only one copy of the mutated gene need be inherited to pass the disorder. A child of a parent with NF-1 or NF-2 and an unaffected parent will have a 50%-100% chance of inheriting the disorder, depending on whether the affected parent is heterozygous (Aa) or homozygous (AA) for the trait (“A” depicts the affected dominant allele, while “a” depics the recessive allele).

NF-1 and NF-2 may be inherited in an autosomal dominant fashion, as well as through random mutation.

Complicating the question of heritability is the distinction between genotype and phenotype, that is, between the genetics and the actual manifestation of the disorder. In the case of NF1, no clear links between genotype and phenotype have been found, and the severity and the specific nature of the symptoms may vary widely among family members with the disorder. This is a good example of the phenomenon of variable expressivity: the differing severities of disease in different individuals with the same genotype.  In the case of NF-2, however, manifestations are similar among family members; a strong genotype-phenotype correlation is believed to exist. Both NF-1 and NF-2 can also appear to be spontaneous de novo mutations, with no family history. These cases account for about one half of neurofibromatosis cases.

Similar to polydactyly, NF is also a autosomally dominant mutation, that is not prevalent in the society. Neurofibromatosis-1 is found in approximately 1 in 2,500-3,000 live births (carrier incidence 0.0004, gene frequency 0.0002) and is more common than NF-2.

Treatment:
There is at present  no cure for NF but the Neurofibromatosis Association is optimistic that there will be an effective treatment within the next five to ten years. For families with NF, genetic screening and counselling is available.

Most people don’t need any treatment but surgery may be necessary to remove some tumours (such as acoustic neuromas or brain tumours) and this can cause complications such as facial paralysis.

Treatment for complications such as epilepsy is given as appropriate. Vision and hearing are regularly tested. Special education is provided for those children with learning difficulties.

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/Neurofibromatosis
http://www.mayoclinic.com/health/neurofibromatosis/DS01185
http://www.bbc.co.uk/health/physical_health/conditions/neurofibroma1.shtml

http://www.jyi.org/news/nb.php?id=895

https://runkle-science.wikispaces.com/NEUROFIBROMATOSIS

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Is this Causing Your Chronic Cough?

Vitamin B-12 deficiency is a known cause of central and peripheral nervous system damage. It has been implicated in sensory neuropathy and autonomic nervous system dysfunction — which can in turn have a role in chronic, unexplained coughs.

A recent study showed that vitamin B-12 deficiency patients had a higher prevalence of laryngeal hyperresponsiveness. After being given B-12 supplements, their symptoms and laryngeal, bronchial, and cough thresholds significantly improved.

According to the study in the American Journal of Clinical Nutrition:

“This study suggests that [vitamin B-12 deficiency] may contribute to chronic cough by favoring sensory neuropathy as indicated by laryngeal hyperresponsiveness and increased NGF expression in pharyngeal biopsies of [vitamin B-12 deficiency] patients. [Vitamin B-12 deficiency] should be considered among factors that sustain chronic cough, particularly when cough triggers cannot be identified.”

Source: American Journal of Clinical Nutrition January 19, 2001; 93(3): 542-548

Posted By Dr. Mercola | March 12 2011

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