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Charcot–Marie–Tooth disease (CMT) is a hereditary motor and sensory neuropathy of the peripheral nervous system characterized by progressive loss of muscle tissue and touch sensation across. In cartoon series 'zig sharko' at the end of episode 'tiny tairent' Marina get a muscle growth but sadly it was off-screen this is what it may looked like. This is based based on zig muscle growth from the same episode.

Are you suffering from redness and inflammation in foot and ankles? Are you experiencing numbness in your affected feet? You may be having a condition known as Charcot Foot. Know what is Charcot Foot disease, its causes, symptoms, diagnosis and treatment.

Charcot Foot Definition

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Picture 1 – Charcot Foot
Source – foothealthfacts

Charcot Foot disorder is a medical condition that leads to weakening of the bones in the foot. The disease is also known as Charcot Joint and Neuropathic Osteoarthropathy. It is a very severe disorder that can give rise to disability, serious deformity and amputation.

Charcot Foot History

Medical world had Charcot Foot named after French clinician Jean-Martin Charcot who is also regarded as the founder of modern neurology. Jean was the first person to describe the dissolution of joint surfaces and ligaments caused by injury or disease. The Charcot Foot original description as Neurogenic Arthropathy can be traced back to as early as 1869 and was restricted only to Syphilis patients.

Charcot Foot Symptoms

Some of the major symptoms of Charcot Foot condition are

Warmth to Touch

Charcot Foot Syndrome generally arises in one foot though it may affect both feet over a period of time. The affected foot feels warmer to touch than the other one.

Redness

The affected region in the foot is usually red in appearance. The redness is pronounced.

Swelling

There is inflammation in the area of the Charcot foot and ankle. Swelling becomes apparent where the disease makes itself visible.

Pain

Sufferers usually complain of soreness or pain in the affected foot area. However, pain may be temporary as numbness sets in into the leg.

Loss of Sensation

In the later stages of the disorder, people with Charcot Foot experience numbness in the affected foot.

As the disease progresses, it can give rise to other severe problems like fracture. The joints may collapse making the foot eventually take an unusual shape. The victim loses sensation in the foot but can continue walking which makes the disease worse.

What Causes Charcot Foot?

Know about some of the main Charcot foot causes :

Neuropathy

Charcot Foot is usually a result of neuropathy. The disease is generally seen in people suffering from neuropathy or significant nerve damage. Neuropathy, or peripheral neuropathy, is a disease that leads to an abnormality of the Central Nervous System (CNS). The disorder results in injury, degeneration or inflammation of peripheral nerves or nerves outside of the Central Nervous System. Peripheral nerves help contraction of the motor nerves or muscles and lets humans experience sensory nerve sensations. Unfortunately, these are fragile nerves and can suffer damage easily. Neuropathy symptoms actually depend on the cause and the nerves involved.

Repetitive Stress

Continuous stress on the feet, such as while walking or running, can often result in collapse of joints and bones in a foot leading to the appearance of this disease.

Sudden Trauma

A sudden injury such as dropping heavy object on the foot can cause sudden collapse of its arch resulting in the formation of this condition.

Who Gets Charcot Foot Condition?

Ill health of the peripheral nerves decreases sensation and the capability to experience sensations of trauma or temperature. Individuals with long term neuropathy are at greater risk for suffering from Charcot foot. Neuropathic patients with a stiff Achilles tendon may also develop this disorder sometime in future.

The disease is also found in people suffering from problems like Diabetes Mellitus and Chronic Hyperglycemia.

Charcot Foot Diagnosis

Diagnosis of Charcot foot is generally done by an experienced surgeon who asks the patient about the symptoms and events that might have occurred prior to the appearance of the condition. Imaging Tests and X-rays are useful in evaluating the condition. The medical history and health of the sufferer is also taken into account for a proper diagnosis.

Charcot Foot Treatment

Charcot Foot treatment options involve both surgical and non-surgical ways of treatment. The non-surgical means of Charcot Foot cure involve

Immobilization

Immobility is highly necessary to prevent damage to foot. Walking, running and even other normal movements can put persistent stress on the foot and further weaken the bones. The affected foot fails to support normal body weight for several months or years until treatment makes it able once again. The foot needs to be put in constant rest to prevent its collapse.

Activity Modification

Damage of one foot normally puts extra pressure on the other one. The level of activity of both feet needs to be modified to protect them.

Custom Shoes

Once the bones have healed, specially designed shoes with customized inserts may be needed to help patients return to activity. In Charcot Foot footwear of special build also helps prevent formation of ulcers, Charcot Foot recurrence and amputation.

Bracing

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Pneumatic Walking Braces may be needed in case of significant deformity of the arch.

Charcot Foot Surgery

Charcot foot Surgery basically involves repair of the collapsed arch of the foot. In Charcot Foot repair by surgery is usually carried out if non-surgical modes of treatment fail to bring about an improvement in the condition of the sufferer. Charcot Foot reconstruction surgery is also needed if the foot condition does not allow fitting of a specialized boot or cast to aid healing. If not done on time, Charcot Foot surgery may result in amputation of a toe, the entire affected foot or even loss of life.

Charcot Foot Complications

Charcot foot usually remains hidden in people with neuropathy and makes it visible much later. In later Charcot foot stages patients suffer from problems like

  • Joint Dislocation
  • Bone Damage
  • Cartilage Damage
  • Ligament weakening
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The disease can also lead to severe deformity of foot which is usually permanent. In some cases of Charcot Foot amputation becomes necessary.

Charcot Foot Long Term Outcome

Charcot Foot usually takes some months to heal. In some patients however, Charcot Foot healing time may extend to several years. With effective treatment, the affected foot becomes entirely normal again.

Charcot Foot Pictures

Want to know how a Charcot Foot looks like? Here are some Charcot Foot disease pictures for you. Check out these Charcot Foot images. These useful Charcot Foot pics will give you an idea about the appearance of this condition.


Picture 2 – Charcot Foot Image
Source – diabetesuffolk


Picture 3 – Charcot Foot Photo
Source – footcaredirect

Charcot Foot early diagnosis and treatment is highly necessary to prevent severe long-term complications and amputation. If you suspect yourself to be having a Charcot foot, it is advisable that you get a medical checkup done immediately. With timely medical assistance you will be back on your feet in no time and enjoy life as well as others.

References :

Written By: Chloe Wilson - BSc(Hons) Physiotherapy
Reviewed By: FPE Medical Review Board

Charcot Marie Tooth Disease (CMT), aka peroneal muscular atrophy, causes weakness and loss of sensation in the feet, legs and hands.

CMT is the most common inherited neurological disorder and affects approximately 1 in every 2,500 people.

Charcot Marie Tooth Disease was first identified in 1886 by three doctors, Jean-Marie Charcot, Pierre Marie and Howard Henry Tooth.

CMT develops gradually, starting with symptoms of weakness and decreased sensation in the feet which can spread progressively over time up the legs, sometimes also affecting the hands and arms. It often results in abnormalities in the shape of the foot such as high foot arches.

Whilst there is no cure for Charcot Marie Tooth Disease, there are a number of treatment options available to reduce symptoms.

Charcot Marie Tooth Symptoms

The symptoms of Charcot Marie Tooth disease varying depending on the type of disease, but there are many shared characteristics including:

  • Changes in Foot Position: CMT typically results in very high foot arches but CMT can also cause flat foot arches
  • Curled Toes:The position of the toes can change into a flexed position, known as hammertoe
  • Pain: may be experienced, usually associated with postural changes, weakness and cramp
Anatomy
  • Muscle Weakness:Wasting of the muscles results in weakness. This starts in the feet and ankles and can gradually spread up the legs, resulting in what is referred to as an upside-down champagne bottle appearance of the legs due to muscle wasting. Weakness may also develop in the hands and forearms, making fine motor control activities like writing difficult
  • Altered Sensation: Decreased or absent sensation (ability to feel touch or temperature) in the feet and hands
  • Cramp:Muscle cramp commonly occurs with CMT disease
  • Spinal Deformity: Curvature of the spine (known as scoliosis) affects up to half of CMT disease sufferers
  • Difficulty Walking: Muscle weakness often leads to difficulty walking and can result in frequent trips, falls and ankle sprains due to an inability to pick the foot up effectively, known as a foot drop. Clumsiness is often one of the first signs of Charcot Marie Tooth disease in children
  • Altered Reflexes:Reflexes such as the knee and ankle jerk may be decreased or absent
  • CMT 3: presents during infancy, usually by the age of two resulting in floppy baby syndrome and delayed motor skills.

Symptoms of Charcot Marie Tooth develop gradually, usually starting during childhood and get progressively worse over time. CMT symptoms usually appear between the ages of 5 and 15 years.

Whilst CMT symptoms progress over time, in most cases, Charcot Marie Tooth Disease does not affect life expectancy. Occasionally however, it can cause breathing problems.

What Causes Charcot Marie Tooth Disease?

Charcot Marie Tooth Disease is a type of peripheral neuropathy. Let me explain. Our bodies are made up of two nervous systems:

Central Nervous System: brain and spinal cord
Peripheral Nervous System: nerve fibres that travel round the body.

In CMT disease, there is a problem with the peripheral nervous system.

There are two types of nerve in the peripheral nervous system:

Motor nerves: which control movement
Sensory nerves: which interpret touch such as heat, cold and pressure

Our nerves work by sending messages in the form of electrical signals from the central nervous system to the rest of the body through the peripheral nervous system.

Think of them like a telephone cable. The wires inside, known as the axon, transmit the electrical signals from one place to another.

The protective outer covering, known as the myelin sheath, protects and insulates the wires from damage so the signals can transmit without interruption. It also allows signals to transmit quicker.

In Charcot Marie Tooth Disease, there may be a problem with:

The Myelin Sheath: This breaks down, exposing the axon to damage, which affects the transmission of signals down the nerve
The Axon: which reduces the strength of the electrical signals

Genetics and CMT Disease

Charcot Marie Tooth disease is caused by a problem with genes. We are made up of around 30,000 pairs of genes. For each pair, we inherit one copy from our mother and one from our father to make a pair, so we have two copies of every gene.

Charcot Marie Tooth disease can be caused by a mutation of a number of different genes. The mutation affects the production of the proteins that form the axon and myelin sheaths in the peripheral nerves. Gradually over time, the nerves degenerate, reducing their ability to transmit signals.

There are three ways that we can inherit the genetic mutations that cause Charcot Marie tooth disease:

Autosomal Dominant Inheritance
This is the most common cause of peroneal muscular atrophy and affects people where one parent has CMT.

Mutation of one of the inherited genes in the pair is sufficient to cause the disease. If one parent carries the mutated gene, there is a 50% chance of the disease being passed on

Autosomal Recessive Inheritance
This affects people who's parents are carriers of CMT gene mutations but do not have the disease themselves. Sims 4 wicked woohoo mod mac.

It requires a mutation of both of the copies of the gene in a pair, i.e. both parents would have to pass on affected genes.

If both parents are carriers of mutated CMT genes, there is a 50% chance of their child being a carrier (carrying one CMT gene but not displaying any symptoms), 25% chance of having CMT disease and 25% chance of inheriting two normal genes.

If only one parent had a recessive CMT gene, their child would not develop peroneal muscular atrophy but would have a 50% chance of being a carrier

X-Linked Inheritance
The mutated gene is linked to the X chromosome (female), not the Y chromosome (male). Males are made up of XY chromosomes and females have XX chromosomes.

When CMT disease is linked with an X chromosome, there is a 50% chance of a mother passing the disease on. If she passes the gene on to a son, he will be symptomatic. If she passes the gene on to a daughter, she is likely to only have mild symptoms as the unaffected X chromosome tends to override the condition.
Very rarely a gene may mutate spontaneously causing peroneal muscular atrophy, rather than being passed down genetically.

Types of CMT Disease

There are five main types of Charcot Marie Tooth Disease:

  • CMT Type 1: This is the most common type of Charcot Marie Tooth Disease accounting for 30% of cases. Gene duplication causes the myelin sheath to break down, known as demyelination. The body responds with a proliferation of Schwann cells which wrap around the axon resulting in remyelination. The cycle keeps repeating producing what is known as the onion bulb effect
  • CMT Type 2: Results from abnormalities in the axon itself. It accounts for 20-40% of cases
  • CMT Type 3: develops in infancy and results in severe demyelination and thinning of the myelin sheath. It is the most severe form of Charcot Marie Tooth Disease causing severe muscle wasting and weakness as well as sensory problems. It is also known as Dejerine-Sottas disease and is extremely rare
  • CMT Type 4: this is a rare type of Charcot Marie tooth disease that affects the myelin sheath
  • CMT Type X:this is another demyelinating neuropathy caused by a mutation in the X chromosome, more commonly affecting men. It accounts for 10-20% of cases

How Is Charcot Marie Tooth Disease Diagnosed?

Diagnosing Charcot Marie Tooth Disease starts with your doctor asking you about your symptoms and any family history of the disease. Examination will start with observation of your foot position, testing muscle strength, reflexes and sensory testing. They will also look for signs of enlarged nerves that can be seen or felt through the skin.
If your doctor suspects Charcot Marie Tooth Disease, you will be referred to a neurologist (a specialist doctor of the nervous system). They will carry out further tests which may include:

  • Nerve Conduction Tests
    This is where they look at the speed and strength of the signals transmitted through the peripheral nerves. This is done using electrodes placed on the skin which produce small electric shocks to stimulate the nerves. Slow or weak signals may indicate CMT disease
  • Electromyogram (EMG)
    This tests the electrical activity at your muscles at rest and when contracting. Small needles connected to a machine are placed in your muscles. They measure the muscles electrical activity at rest and then when you try and contract the muscle. Specific patterns of activity can be seen in some types of CMT disease
  • Nerve Biopsy
    If nerve conduction and EMG tests have been inconclusive, a nerve biopsy may be performed. This is when a small section of a peripheral nerve is removed under local anaesthetic and examined under a microscope for signs of Charcot Marie Tooth disease
  • Gene Testing
    Genetic testing from a blood sample can be used to diagnose most types of peroneal muscular atrophy, but not all genes that cause the disease have been identified yet

Charcot Marie Tooth Treatment

There is currently no cure for Charcot Marie Tooth disease, but a combination of therapy, orthotics, surgery and medication can help to reduce symptoms. Treatment for CMT Disease may include:

Physiotherapy

Rehab programmes are a vital part of peroneal muscular atrophy treatment.

Shark Muscles

Strengthening exercises: help combat the weakness associated with the disease. They are most effective when started early, before the muscles have a chance to waste

Stretches: particularly for the calf muscles and Achilles tendon should be done daily to prevent muscle contractures

General fitness programmes also help to reduce fatigue from the extra effort required for movement. Low impact activities such as cycling and swimming are recommended to limit the force put through the joints.

It can also help to work on balance and posture to prevent injuries or associated problems.

Occupation Therapy

This looks at ways to make your activities of daily living such as washing and dressing easier, through practical methods and using adaptive aids.

Orthotics

There's a huge variety of orthotics that be helpful with Charcot Marie Tooth disease, depending on your symptoms.

Shoe Inserts: help to correct foot position such as fallen arches

AFO: an ankle foot orthosis is particularly useful if you have a foot drop as it holds your foot in a neutral position so you aren't tripping over your toes when you walk

Braces: ankle and knee braces can be useful for providing support and stability of the foot and leg and make activities such as walking easier

Each of these can help reduce the risk of injury for people suffering from Charcot Marie Tooth disease.

Painkillers

Analgesics may be prescribed to reduce pain associated with the disease. Neurotoxic drugs such as vincristine should be avoided as they can make the condition worse.

Surgery

Sometimes surgery is necessary to combat structural deformities of the foot and ankle. Bone surgery such as an osteotomy or arthrodesis helps correct the shape of the foot such as realigning hammertoes, correcting severely fallen foot arches or fusing the ankle joint for stability.

Soft tissue release is done if muscles and tendons have become too type such as plantar fascia release. Spinal surgery may be required if a scoliosis has developed.

What Else Can Help?

Exercises can make a big difference for people suffering from Charcot Marie Tooth disease. Exercise programmes should be carried out under the guidance of a physiotherapist, but visit the strengthening exercises and ankle stretches for some suggestions of things that might help treat peroneal muscular atrophy.
If Charcot Marie Tooth Disease is not sounding quite like your problem, visit the foot pain diagnosis section for help working out what is wrong, or the common foot problems section.

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Page Last Updated: 2019-06-13
Next Review Due: 2021-06-13

References

1. Gait & Posture Journal:Evaluation of muscle strength, balance and functionality of individuals with type 2 Charcot-Marie-Tooth Disease. de França Costa IMP, Nunes PS, de Aquino Neves EL, Lima Santos Barreto LC, Garcez CA, Souza CC, Pereira Oliveira PM, Sales Ferreira LA, Brandão Lima VN, de Souza Araújo AA. 2018

2. American Journal of Human Genetics:Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.Lassuthova P1, Rebelo AP2, Ravenscroft G, Lamont PJ et al. American Journal of Human Genetics 2018

3. British Medical Journal Best Practice: Charcot Marie Tooth Disease. May 2018

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