Tag Archives: Charcot-Marie-Tooth Disease


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::



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.

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.

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


















Exams and Tests:

Specific tests of nerve function include:




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.


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.



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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.

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 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.





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.

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.


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.

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.”


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

Lifestyle & Homeremedies:




Foot care is important


*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:




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