Tag Archives: Peripheral neuropathy

Palmar hyperhidrosis

Description:
Palmer hyperhidrosis is profuse perspiration (excessive sweating) of the palms.It is one form of focal hyperhidrosis, meaning profuse perspiration affecting one area of the body. Sweaty palms may be accompanied by profuse perspiration of the feet, forehead, ckeeks, armpits (axillae) or be part of general hyperhidrosis (profuse perspiration throughout the body). Hyperhidrosis refers to profuse perspiration beyond the body’s thermoregulatory (temperature control) needs.

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Palmer  hyperhidrosis is a common condition in which the eccrine (sweat) glands of the palms and soles secrete inappropriately large quantities of sweat. The condition may become socially and professionally debilitating. The condition usually is idiopathic  and  it begins in childhood and frequently runs in families.

Symptoms:
The intensity of symptoms may vary among sufferers and trigger factors should be carefully noted. Common symptoms  are :

*Perspiration of the hands can vary from mild clamminess to severe perspiration resulting in dripping sweat.
*Temperature differences of palmar surface compared to surface temperature of other parts of the body may be noted.
*Sloughing (peeling) of skin may be noted in profuse perspiration.
*Episodes of profuse perspiration may be followed by periods of extreme dryness on the palmar surface.
*Hyperhidrosis often starts in puberty, and family history is often reported.

The secondary effects of palmar hyperhidrosis can result in both psychosocial effects as well as difficulty in undertaking certain tasks or handling equipment. Sufferers of palmar hyperhidrosis are often reluctant to partake in socially expected actions like shaking hands or touching loved ones. The embarrassment of dealing with this condition can affect the level of interactivity in both social and work situations. Difficulties with holding objects, gripping equipment or soiling electronic devices like keyboards may affect functioning at work. Daily activities such as writing with a pen or counting cash notes is often difficult.

Causes:
Hyperhidrosis is either primary focal or secondary generalized.

1. Primary Palmar  Hyperhidrosis

Focal palmar hyperhidrosis is usually localized and is referred to as primary (essential, idiopathic), meaning no obvious cause, except strong family predisposition can be found (4,5), and affected persons are otherwise healthy . Sweating on other locations as feet, armpits and face may appear. Primary palmar hyperhidrosis is caused by overactivity of the sympathetic nervous system, primarily triggered by emotional causes including anxiety, nervousness, anger and fear .

There may be a significant reduction in perspiration during sleep or sedation.

2. Secondary Palmar Hyperhidrosis

In secondary palmar hyperhidrosis hands sweat due to an obvious underlying disorder like:

*Infections including local infections, tuberculosis and tinea ugunium.
*Neurological disorders like peripheral autonomic neuropathy
*Frostbite
*Arteriovenous Fistulas
*Acromegaly
*Acrodynia
*Complex Regional Pain Syndromes
*Pachyonychia Congenita
*Primary Hypertrophic osteoarthropathy
*Dyskeratosis Congenita
*Blue rubber-bleb nevus
*Glomus tumor

*Secondary palmar hyperhidrosis as part of generalized hyperhidrosis due to  several  hormonal causes (diabetes, hyperthyroidism, thyrotoxicosis, menstruation, menopause), metabolic disorders, malignant disease (lymphoma, pheochromocitoma), autoimmune disorders (rheumatoid arthritis, systemic lupus erythrematosus), drugs like hypertensive drugs and certain classes of antidepressants (list of medications causing hyperhidrosis), chronic use of alcohol, Parkinson’s disease, neurological disorders (toxic neuropathy), homocystinuria, plasma cell disorders. Detailed list of conditions causing generalyzed hyperhidrosis.

How Sweat Glands Work:
In eccrine glands, the major substance enabling impulse conduction is acetylcholine, and in apocrine glands, they are catecholamines.

Body temperature is controlled by the thermoregulatory center in the hypothalamus and this is influenced not only by  by core body temperature but also by hormones, pyrogens, exercise and emotions.

Diagnosis:
The first step in diagnosing  the  Palmar  hyperhidrosis is to differentiate between generalized and focal hyperhidrosis.

A thorough case taking and medical history is usually sufficient to diagnose palmar hyperhidrosis and any trigger factors (scheduled drugs, narcotics, chronic alcoholism).

Diagnostic criteria for primary focal (including palmar) hyperhidrosis  are:

*Bilateral and relatively symmetric sweating
*Frequency of at least 1 episode per week
*Impairment of daily activities
*Age at onset before 25 years
*Family history
*Cessation of sweating during sleep

Tests may include:
*Hematological studies may be necessary to identify thyroid disorders (thyroid function test for T3 and T4 as well as thyroid antibodies) and diabetes (fasting blood glucose or a glucose tolerance test).

*X-rays and MRI scans will assist for diagnosing tuberculosis, pneumonia and tumors.

*Superficial electroconductivity can be monitored as any hyperhidrosis reduces skin electrical resistance.

*Thermoregulatory sweat test uses moisture-sensitive indicator powder to monitor moisture. Changes in the color of the powder at room temperature will highlight areas of increased perspiration.

Treatment:
Conservative management should be coupled with prescribed treatment by the Doctor to reduce the symptoms.

*Counseling may be effective in managing primary palmar hyperhidrosis in cases of mental-emotional etiology.

*Trigger foods and aggravating factors should be noted if possible and relevant dietary changes should be implemented.

*Effective prevention of secondary palmar hyperhidrosis is difficult with conservative management and drug therapy or surgery may be required.

*Excessive physical activity and extremes of heat may be two trigger factors that should be avoided as far as possible.

*In cases of diabetes, a glucose controlled diet with low glycemic index may improve glucose tolerance which could assist with palmar hyperhidrosis.

*Abstinence from alcohol and narcotics is advisable if it is the causative factor for sweaty palms.

*Stimulants such as caffeine and nicotine may aggravate palmar hypehidrosis and should relevant dietary and lifestyle changes should be implemented.

*Anti-perspirant compounds like aluminum chloride can be applied on the palms to reduce moisture or palmar surfaces. Recent research on an aluminum sesquichlorohydrate foam has shown that it is effective in reducing sweat in palmar hyperhidrosis

Treatment remains a challenge: options include topical and systemic agents, iontophoresis, and botulinum toxin type A injections, with surgical sympathectomy as a last resort. None of the treatments is without limitations or associated complications. Topical aluminum chloride hexahydrate therapy and iontophoresis are simple, safe, and inexpensive therapies; however, continuous application is required because results are often short-lived, and they may be insufficient. Systemic agents such as anticholinergic drugs are tolerated poorly at the dosages required for efficacy and usually are not an option because of their associated toxicity. While botulinum toxin can be used in treatment-resistant cases, numerous painful injections are required, and effects are limited to a few months.

Standard therapeutic protocol may differ among cases of palmar hyperhidrosis depending on medical history and underlying pathology.

*Anticholinergic drugs have a direct effect on the sympathetic nervous system although there are numerous side effects.

*Treatment should be directed at contributing factors.

*Ionophoresis involves the use of electrotherapeutic measures to reduce the activity of sweat glands.

*Botulinum injections at the affected area may be useful for its anticholinergic effects.

*Surgery should be considered if drug therapy proves ineffective. Endoscopic transthoracic sympathectomy involves resection of the sympathetic nerve supply to the affected area. This prevents nerve stimulation of the sweat gland of the palms. However surgery has a host of complications including exacerbating the problem or increasing generalized hyperhidrosis.

Surgical sympathectomy should be reserved for the most severe cases and should be performed only after all other treatments have failed. Although the safety and reliability of treatments for palmoplantar hyperhidrosis have improved dramatically, side effects and compensatory sweating are still common, potentially severe problems.

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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.aafp.org/afp/2004/0301/p1117.html

Causes and Treatment of Palmar Hyperhidrosis – Sweaty Palms/Hands

Neuropathy

Definition:
Neuropathy is a general term that refers to diseases or malfunctions of the nerves. Any nerves at any location in the body can be damaged from injury or disease. Neuropathy is often classified according to the types or location of nerves that are affected. It is a disease caused by changes in the nerve cells. These changes may be age related. The degeneration is accelerated and aggravated if the patient suffers from diabetes, hypertension or has an abnormal lipid profile. Neuropathy can affect all three nervous systems — central, peripheral and autonomous.

If the central nervous system is affected, memory and cognitive skills decline. Forgetfulness becomes an accepted way of life. Peripheral neuropathy produces the most obvious, incapacitating, and distressing symptoms.

In some, the affected nerves may produce symptoms that are symmetrical (occurring in both limbs) and appear first in the furthest extremity. There may be paraesthesia (tingling, burning or numb sensation), hyperalgesia (abnormally acute pain sensation to innocuous stimuli) or deep aching. The symptoms tend to get worse at night and interfere with sleep.

Neuropathy can also be classified according to the disease causing it. (For example, neuropathy from the effects of diabetes is called diabetic neuropathy.)

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Types of Neuropathy::

Peripheral neuropathy: Peripheral neuropathy is when the nerve problem affects the nerves outside of the brain and spinal cord. These nerves are part of the peripheral nervous system. Accordingly, peripheral neuropathy is neuropathy that affects the nerves of the extremities- the toes, feet, legs, fingers, hands, and arms. The term proximal neuropathy has been used to refer to nerve damage that specifically causes pain in the thighs, hips, or buttocks.

Cranial neuropathy: Cranial neuropathy occurs when any of the twelve cranial nerves (nerves that exit from the brain directly) are damaged. Two specific types of cranial neuropathy are optic neuropathy and auditory neuropathy. Optic neuropathy refers to damage or disease of the optic nerve that transmits visual signals from the retina of the eye to the brain. Auditory neuropathy involves the nerve that carries signals from the inner ear to the brain and is responsible for hearing.

Autonomic neuropathy: Autonomic neuropathy is damage to the nerves of the involuntary nervous system, the nerves that control the heart and circulation (including blood pressure), digestion, bowel and bladder function, the sexual response, and perspiration. Nerves in other organs may also be affected.

Focal neuropathy: Focal neuropathy is neuropathy that is restricted to one nerve or group of nerves, or one area of the body. Symptoms of focal neuropathy usually appear suddenly.

Symptoms:
Neuropathy is associated with varied characteristic symptoms. Although some people with neuropathy may not have symptoms, certain symptoms are common. The degree to which an individual is affected by a particular neuropathy varies.

Damage to the sensory nerves is common in peripheral neuropathy. Symptoms often begin in the feet with a gradual onset of loss of feeling, numbness, tingling, or pain and progress toward the center of the body with time. The arms or legs may be involved. The inability to determine joint position may also occur, which can result in clumsiness or falls. Extreme sensitivity to touch can be another symptom of peripheral neuropathy. The sensation of numbness and tingling of the skin is medically known as paresthesia.

The loss of sensory input from the foot means that blisters and sores on the feet may develop rapidly and not be noticed. Because there is a reduced sensation of pain, these sores may become infected and the infection may spread to deeper tissues, including bone. In severe cases, amputation may be necessary.

When damage to the motor nerves (those that control movement) occurs, symptoms include weakness, loss of reflexes, loss of muscle mass, cramping, and/or loss of dexterity.

Autonomic neuropathy, or damage to the nerves that control the function of organs and glands, may manifest with a wide variety of symptoms, including:

•Nausea, vomiting, or abdominal bloating after meals

•Urinary symptoms, such as incontinence, difficulty beginning to urinate, or feeling that the bladder was not completely emptied

•Impotence (erectile dysfunction) in men

•Dizziness or fainting

•Constipation or diarrhea

•Blurred vision

•Heat intolerance or decreased ability to sweat

•Hypoglycemia unawareness: Low blood sugar levels (hypoglycemia) are associated with trembling, sweating, and palpitations. In people with autonomic neuropathy, these characteristic symptoms may not occur, making dangerously low blood sugar levels difficult to recognize.

Causes:
Neuropathy or nerve damage may be caused by a number of different diseases, injuries, infections, and even vitamin deficiency states.
Some of them are :-

•Diabetes: Diabetes is the condition most commonly associated with neuropathy. The characteristic symptoms of peripheral neuropathy often seen in people with diabetes are sometimes referred to as diabetic neuropathy. The risk of having diabetic neuropathy rises with age and duration of diabetes. Neuropathy is most common in people who have had diabetes for decades and is generally more severe in those who have had difficulty controlling their diabetes, or those who are overweight or have elevated blood lipids and high blood pressure.

•Vitamin deficiencies: Deficiencies of the vitamins B12 and folate as well as other B vitamins can cause damage to the nerves.

•Autoimmune neuropathy: Autoimmune diseases such as rheumatoid arthritis, systemic lupus, and Guillain-Barre syndrome can cause neuropathies.

•Infection: Some infections, including HIV/AIDS, Lyme disease, leprosy, and syphilis, can damage nerves.

•Post-herpetic neuralgia: Post-herpetic neuralgia, a complication of shingles (varicella-zoster virus infection) is a form of neuropathy.

•Alcoholic neuropathy: Alcoholism is often associated with peripheral neuropathy. Although the exact reasons for the nerve damage are unclear, it probably arises from a combination of damage to the nerves by alcohol itself along with the poor nutrition and associated vitamin deficiencies that are common in alcoholics.

•Genetic or inherited disorders: Genetic or inherited disorders can affect the nerves and are responsible for some cases of neuropathy. Examples include Friedreich’s ataxia and Charcot-Marie-Tooth disease.

•Amyloidosis: Amyloidosis is a condition in which abnormal protein fibers are deposited in tissues and organs. These protein deposits can lead to varying degrees of organ damage and may be a cause of neuropathy.

•Uremia: Uremia (a high concentration of waste products in the blood due to kidney failure) can lead to neuropathy.

•Toxins and poisons can damage nerves. Examples include, gold compounds, lead, arsenic, mercury, some industrial solvents, nitrous oxide, and organophosphate pesticides.

•Drugs or medication: Certain drugs and medications can cause nerve damage. Examples include cancer therapy drugs such as vincristine (Oncovin, Vincasar), and antibiotics such as metronidazole (Flagyl), and isoniazid (Nydrazid, Laniazid).

•Trauma/Injury: Trauma or injury to nerves, including prolonged pressure on a nerve or group of nerves, is a common cause of neuropathy. Decreased blood flow (ischemia) to the nerves can also lead to long-term damage.

•Tumors: Benign or malignant tumors of the nerves or nearby structures may damage the nerves directly, by invading the nerves, or cause neuropathy due to pressure on the nerves.

•Idiopathic: Idiopathic neuropathy is neuropathy for which no cause has been established. The term idiopathic is used in medicine to denote the fact that no cause is known.

Diagnosis:
The diagnosis of neuropathy and its cause involve a thorough medical history and physical examination to help your health care professional determine the cause and severity of neuropathy. A neurological examination, testing the reflexes and function of sensory and motor nerves, is an important component of the initial examination.

Although there are no blood tests that are specific for determining whether of not neuropathy is present, when neuropathy is suspected, blood tests are often used to check for the presence of diseases and conditions (for example, diabetes or vitamin deficiencies) that may be responsible for nerve damage.

Imaging studies such as X-rays, CT scans, and MRI scans may be performed to look for sources of pressure on or damage to nerves.

Exams and Tests:

Specific tests of nerve function include:

•Electromyography (EMG) is a test that measures the function of the nerves. For this test a very thin needle is inserted through the skin into the muscle. The needle contains an electrode that measures the electrical activity of the muscle.

•A nerve conduction velocity test (NCV) measures the speed at which signals travel through the nerves. This test is often done with the EMG. In the NCV test, patches containing surface electrodes are placed on the skin over nerves at various locations. Each patch gives off a very mild electrical impulse, which stimulates the nerve. The electrical activity of the nerves is measured and the speed of the electrical impulses between electrodes (reflecting the speed of the nerve signals) is calculated.

•In some cases, a nerve biopsy may be recommended. A biopsy is the surgical removal of a small piece of tissue for examination under a microscope. A pathologist, a physician specially trained in tissue diagnosis, examines the specimen and can help establish the cause of the neuropathy. The procedure is performed using a local anesthetic. The sural nerve (in the ankle), or the superficial radial nerve (wrist) are the sites most often used for biopsy.

Treatment:
The treatment of neuropathy involves measures to control the symptoms as well as treatment measures that address the underlying cause of neuropathy, if appropriate. Medical treatments for diabetes, autoimmune diseases, infections, kidney disease, and vitamin deficiencies are varied and are directed at the specific underlying condition. In many cases, treatment of the underlying disease can reduce or eliminate the symptoms of neuropathy. Some cases, especially those involving compression or entrapment of nerves by tumors or other conditions, can be relieved by surgery.

Many adjuvant medications have been tried, such as mega doses of vitamins, iron, zinc, calcium, alpha lipoic acid, acetyl-L carnitine. Increasing doses of painkillers like tramadol are also used. Sometimes they are combined with anti histamines like diphendydramnine (Benadryl) and pain modifying drugs. Combinations with anti epileptics such as gabapentin and anti depressants like amitriptyline reduce the intensity of symptoms. None of these treatments has been 100 per cent successful. The pain is still present in 80 per cent of the patients 5-10 years later.

Control of blood glucose (sugar) levels is important in the treatment of diabetic neuropathy to help prevent further damage to nerves.

Clinical trials are underway to help find new and more effective treatments for neuropathy. For example, treatments that involve electrical nerve stimulation or magnetic nerve stimulation are being studied.

Self care at home:
Special and careful care of the feet is important in people with neuropathy to reduce the chance of developing sores and infections. The nerves to the feet are the nerves most commonly affected by neuropathy. Proper foot care includes:

•wash the feet with warm water each day and thoroughly dry feet after washing (especially between the toes);

•never go barefoot or wear improperly-fitting, damaged, or too-tight footwear;

•inspect the feet daily, looking for cuts, blisters, or other problems;

•cut and file toenails when needed;

•thick, seamless socks can help prevent irritation of the feet;

•call your health care practitioner if you have any problems with your feet;

•massaging the feet can improve circulation; and

•smoking cessation can further improve blood circulation, since smoking damages circulation to the extremities and may worsen foot problems.

.The intensity of the pain can be reduced by soaking the legs up to the knees in warm salted water for 10 minutes, half-an-hour before bed. Application of pain relieving ointments that contain capsaicin also provides relief. The ointment should be applied every 3-4 hours. Do not rub the ointment in too vigorously as it will damage the skin.

Prevention:

Neuropathy is preventable only to the extent that the underlying condition or cause is preventable. For those with diabetes, studies have conclusively shown that long-term control of blood glucose levels is critically important in preventing the development of neuropathy and other complications of diabetes. Neuropathy that arises due to poor nutrition or alcohol abuse may be preventable if these causes can be eliminated. Genetic or inherited causes of neuropathy are not preventable.

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.emedicinehealth.com/neuropathy/article_em.htm
http://www.telegraphindia.com/1130211/jsp/knowhow/story_16546702.jsp

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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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Charcot-Marie-Tooth disease(CMT)

Alternative Names::Morbus Charcot-Marie-Tooth, Charcot-Marie-Tooth neuropathy, hereditary motor and sensory neuropathy (HMSN), hereditary sensorimotor neuropathy (HSMN), or peroneal muscular atrophy.

Definition:
Charcot–Marie–Tooth disease (CMT) is  an inherited disorder of nerves (neuropathy) that takes different forms. It is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease. Currently incurable, this disease is one of the most common inherited neurological disorders, with 36 in 100,000 affected.

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In 1886, Professor Jean Martin Charcot of France (1825-1893) and his student Pierre Marie (1853-1940) published the first description of distal muscle weakness and wasting beginning in the legs, calling it peroneal muscular atrophy.

Howard Henry Tooth (1856-1926) described the same disease in his Cambridge dissertation in 1886, calling the condition peroneal progressive muscular atrophy. Tooth was the first to attribute symptoms correctly to neuropathy rather than to myelopathy, as physicians previously had done.

In 1912, Hoffman identified a case of peroneal muscular atrophy with thickened nerves. This disease was referred to as Hoffman disease and later was known as Charcot-Marie-Tooth-Hoffman disease.

In 1968, CMT disease was subdivided into 2 types, CMT 1 and CMT 2, based on pathologic and physiologic criteria. CMT disease has been subdivided further based on the genetic cause of the disease.

•In CMT type 1, the peripheral nerves’ axons – the part of the nerve cell that transmits electrical signals to the muscles – lose their protective outer coverings, their myelin sheaths. This disrupts the axons’ function.

•In CMT type 2, the axons’ responses are diminished due to a defect within the axons themselves. CMT type 2, the less common of the two classes, can be further separated into at least six subtypes, caused by defects in different genes.

Symptoms:
Symptoms of the CMT usually begin in late childhood or early adulthood. Some people don’t experience symptoms until their early thirties or forties. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause claw toe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to “stork leg” or “inverted bottle” appearance. Weakness in the hands and forearms occurs in many people later in life as the disease progresses.

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English: The foot of a person with Charcot-Mar...

English: The foot of a person with Charcot-Marie-Tooth. The lack of muscle, high arch, and hammer toes are signs of the genetic disease. This patient was diagnosed with CMT-1A. Deutsch: atrophischer Hohlfuß bei hereditärer motosensibler Neuropathie I (Charcot-Marie-Tooth) (Photo credit: Wikipedia)

Symptoms and progression of the disease can vary. Breathing can be affected in some; so can hearing, vision, and the neck and shoulder muscles. Scoliosis is common. Hip sockets can be malformed. Gastrointestinal problems can be part of CMT, as can chewing, swallowing, and speaking (as vocal cords atrophy). A tremor can develop as muscles waste. Pregnancy has been known to exacerbate CMT, as well as extreme emotional stress.

Neuropathic pain is often a symptom of CMT though, like other symptoms of CMT, it’s presence and severity varies from case to case. For some people, pain can be significant to severe and interfere with daily life activities. However, pain is not experienced by all people with CMT. When pain is present as a symptom of CMT, it is comparable to that seen in other peripheral neuropathies, as well as Postherpetic neuralgia and Complex regional pain syndrome, among other diseases

The most common symptoms of Charcot-Marie-Tooth disease may include:

*Weakness in your legs, ankles and feet
*Loss of muscle bulk in legs and feet
*High foot arches
*Curled toes (hammertoes)
*Decreased ability to run
*Difficulty lifting your foot at the ankle (footdrop)
*Awkward or higher than normal step (gait)
*Frequent tripping or falling
*Decreased sensation in your legs and feet
*Numbness in the legs and feet

As Charcot-Marie-Tooth disease progresses, symptoms may not be limited to the feet and legs but may also involve the thighs, hands and arms. Charcot-Marie-Tooth disease generally doesn’t cause pain.

Causes:
Charcot–Marie–Tooth disease is caused by mutations that cause defects in neuronal proteins. Nerve signals are conducted by an axon with a myelin sheath wrapped around it. Most mutations in CMT affect the myelin sheath. Some affect the axon.

The most common cause of CMT (70-80% of the cases) is the duplication of a large region in chromosome 17p12 that includes the gene PMP22. Some mutations affect the gene MFN2, which codes for a mitochondrial protein. Cells contain separate sets of genes in their nucleus and in their mitochondria. In nerve cells, the mitochondria travel down the long axons. In some forms of CMT, mutated MFN2 causes the mitochondria to form large clusters, or clots, which are unable to travel down the axon towards the synapses. This prevents the synapses from functioning.

Risk Factors:
Charcot-Marie-Tooth disease is hereditary, so you’re at higher risk of developing the disorder if anyone in your immediate family has had the disease. Other causes of neuropathies, such as diabetes, may cause symptoms of or worsen Charcot-Marie-Tooth disease.

Complecations:
Complications of Charcot-Marie-Tooth disease vary in severity from person to person, with foot abnormalities and difficulty walking generally being the most serious problems. Muscle weakness may also increase, and injury to areas of the body with decreased sensation may occur.

Diagnosis:
CMT can be diagnosed through symptoms, through measurement of the speed of nerve impulses (electromyography), through biopsy of the nerve, and through DNA testing. DNA testing can give a definitive diagnosis, but not all the genetic markers for CMT are known.CMT is first noticed when someone develops lower leg weakness and foot deformities such as foot drop, hammertoes and high arches. But signs alone do not lead to diagnosis. Patients must be referred to a neurologist or a physical medicine and rehabilitation physician (physiatrist). To see signs of muscle weakness the neurologist will ask patients to walk on their heels or to move part of their leg against an opposing force. In order to identify sensory loss the neurologist will test for deep tendon reflexes, such as the knee jerk, which are reduced or absent in CMT. The doctor will also ask about family history because CMT is hereditary. The lack of family history does not rule out CMT, but it will allow the doctor to rule out other causes of neuropathy such as diabetes or exposure to certain chemicals or drugs.

In 2010, CMT was one of the first diseases where the genetic cause of a particular patient’s disease was precisely determined by sequencing the whole genome of an affected individual. Two mutations were identified in a gene, SH3TC2, known to cause CMT. Researchers then compared the affected patient’s genome to the genomes of the patient’s mother, father, and seven siblings with and without the disease. The mother and father each had one normal and one mutant copy of this gene, and had mild or no symptoms. The offspring that inherited two mutant genes presented fully with the disease. Sequencing the initial patient’s whole genome cost $50,000, but researchers estimated that it would soon cost $5,000 and become common.

CMT is divided into the primary demyelinating neuropathies (CMT1, CMT3, and CMT4) and the primary axonal neuropathies (CMT2), with frequent overlap. Another cell involved in CMT is the Schwann cell, which creates the myelin sheath, by wrapping its plasma membrane around the axon in a structure that is sometimes compared to a Swiss roll.

Neurons, Schwann cells, and fibroblasts work together to create a working nerve. Schwann cells and neurons exchange molecular signals that regulate survival and differentiation. These signals are disrupted in CMT.

Demyelinating Schwann cells causes abnormal axon structure and function. They may cause axon degeneration. Or they may simply cause axons to malfunction.

The myelin sheath allows nerve cells to conduct signals faster. When the myelin sheath is damaged, nerve signals are slower, and this can be measured by a common neurological test, electromyography.

When the axon is damaged, on the other hand, this results in a reduced compound muscle action potential (CMAP).

There are many different genetic variants. Most cases are inherited as an autosomal dominant condition, but some are inherited in an autosomal recessive or x-linked pattern.

Treatment:
Although there is no current standard treatment, the use of ascorbic acid has been proposed, and has shown some benefit in animal models. A clinical trial to determine the effectiveness of high doses of ascorbic acid (vitamin C) in treating humans with CMT type 1A has been conducted. The results of the trial upon children have shown that a high dosage intake of ascorbic acid is safe but the efficacy endpoints expected were not met. In 2010, a study published in the Journal Science indicated that scientists had identified those proteins that control the thickness of myelin sheath. This discovery is expected to open the avenue to new treatments in the coming years.

The most important activity for patients with CMT is to maintain what movement, muscle strength and flexibility they have. Therefore, physical therapy and moderate activity are recommended but overexertion should be avoided. A physical therapist should be involved in designing a exercise program that fits a patient’s personal strengths and flexibility. Bracing can also be used to correct problems caused by CMT. Gait abnormalities can be corrected by the use of either articulated (hinged) or unarticulated, braces called AFOs (ankle-foot orthoses). These braces help control foot drop and ankle instability and often provide a better sense of balance for patients. Appropriate footwear is also very important for people with CMT, but they often have difficulty finding well-fitting shoes because of their high arched feet and hammer toes. Due to the lack of good sensory reception in the feet, CMT patients may also need to see a podiatrist for help in trimming nails or removing calluses that develop on the pads of the feet. A final decision a patient can make is to have surgery. Using a podiatrist or an orthopedic surgeon, patients can choose to stabilize their feet or correct progressive problems. These procedures include straightening and pinning the toes, lowering the arch, and sometimes, fusing the ankle joint to provide stability.

The Charcot-Marie-Tooth Association classifies the chemotherapy drug vincristine as a “definite high risk” and states that “vincristine has been proven hazardous and should be avoided by all CMT patients, including those with no symptoms.”

There are also several corrective surgical procedures that can be done to improve physical condition.

Genetic testing is available for many of the different types of Charcot-Marie-Tooth and may help guide treatment.

Lifestyle & Homeremedies:
Certain tactics may prevent complications caused by Charcot-Marie-Tooth disease and improve your ability to manage the effects of the disorder.

Started early and followed regularly, at-home activities can provide protection and relief:

*Stretch regularly. The goal of stretching is to improve or maintain the range of motion of your joints. Stretching improves your flexibility, balance and coordination. Stretching may also reduce your risk of injury. If you have Charcot-Marie-Tooth disease, regular stretching can prevent or reduce joint deformities that may result from uneven pulling of muscle on your bones.

*Exercise daily. Exercising every day keeps your bones and muscles strong. Low-impact exercises, such as biking and swimming, are less stressful on fragile muscles and joints. By strengthening your muscles and bones, you can improve your balance and coordination, reducing your risk of falls.

*Improve your stability. Muscle weakness associated with Charcot-Marie-Tooth disease may cause you to be unsteady on your feet, which can lead to falling and serious injury. Walking with a cane or a walker can increase your stability. Good lighting at night can help you avoid stumbling and falling.
Foot care is important
Because of foot deformities and loss of sensation, regular foot care is important to help relieve symptoms and to prevent complications:

*Inspect your feet. Daily inspection of your feet is important to prevent calluses, ulcers, wounds and infections.

*Take care of your nails. Cut your nails regularly. To avoid ingrown toenails and infections, cut straight across and avoid cutting into the nailbed edges. Consider regular professional pedicures.

*Wear the right shoes. Use shoes that fit properly and are roomy and protective. Consider wearing boots or high-top shoes for ankle support.

*Soak and moisturize the skin of your feet. Brief, daily cold and warm foot soaks followed by the application of moisturizing lotions keep the skin of the feet moist and pliable. This can be very effective in reducing neuropathic pain and foot discomfort.

Coping & Support:
Support groups, in conjunction with your doctor’s advice, can be valuable in dealing with Charcot-Marie-Tooth disease. Support groups bring together people who are coping with the same kinds of challenges, along with their families and friends, and offer a setting in which people can share their common problems.

Ask your doctor about support groups in your community. Your local health department, public library and telephone book and the Internet also may be good sources to find a support group in your area.

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/charcotmarietooth1.shtml
http://www.mayoclinic.com/health/charcot-marie-tooth-disease/DS00557
http://www.genome.gov/11009201
http://emedicine.medscape.com/article/1232386-overview

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