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Charcot-Marie-Tooth Disease Samples

by | Jun 9, 2022 | News Releases | 0 comments

Bay Biosciences provides high quality, clinical grade, 2-4mm skin punch biopsy tissue samples, FFPE tissue blocks with matched cryogenically preserved sera (serum), plasma, peripheral blood mononuclear cells (PBMC) biofluid samples from patients diagnosed with Charcot-Marie-Tooth (CMT) disease.

The sera (serum), plasma and PBMC biofluid specimens are processed from Charcot-Marie-Tooth (CMT) patient’s peripheral whole-blood using customized collection and processing protocols.

The Charcot-Marie-Tooth (CMT) sera (serum), plasma and peripheral blood mononuclear cells (PBMC) biofluids are processed from patient’s peripheral whole-blood using customized collection and processing protocols.

Charcot-Marie-Tooth (CMT) Disease Overview

Charcot-Marie-Tooth disease is a group of inherited disorders that cause nerve damage. This damage is mostly in the arms and legs (peripheral nerves). Charcot-Marie-Tooth disease is also called hereditary motor and sensory neuropathy.

CMT disease results in smaller, weaker muscles. The CMT patients may also experience loss of sensation and muscle contractions, and difficulty walking. Foot deformities such as hammertoes and high arches also are common. Symptoms usually begin in the feet and legs, but they may eventually affect the hands and arms.

Symptoms of Charcot-Marie-Tooth disease typically appear in adolescence or early adulthood but may also develop in midlife. 

Charcot-Marie-Tooth disease is the most common genetic condition that involves peripheral nerves that affects estimated 150,000 people in the United States. Patients with this condition experience muscle weakness, particularly in the arms and legs. It occurs in populations worldwide with a prevalence of about 1 in 3,300 individuals.

CMT affects the peripheral nerves. These are the nerves outside the main central nervous system (CNS). They control the muscles and relay data from the arms and legs to the brain, allowing a person to sense touch. It is a progressive disease, which means that symptoms get worse in patients over time.

CMT is also known as Charcot-Marie-Tooth hereditary neuropathy, peroneal muscular atrophy, or hereditary motor and sensory neuropathy. Its name comes from the three physicians who first described it: Jean Charcot, Pierre Marie, and Howard Henry Tooth. Most patients with CMT will have a normal lifespan.

The impact of CMT disease depends on the type and how severe the disease is.

  • Charcot-Marie-Tooth (CMT) is a neurological condition.
  • It leads to muscle wasting, especially in the lower legs.
  • It tends to run in families.
  • The impact it will have depends on the type and how severe it is.

 

Types of Charcot-Marie-Tooth Disease

According to the CMT research foundation, researchers have identified mutations in more than 100 different genes that cause CMT, but the vast majority of people with CMT (90%) have one of 4 types: which are CMT1A, CMT1B, CMT2A and CMTX.

CMT1 causes demyelinating neuropathies in which the myelin sheath is damaged, so the nerve signals transmit very slowly. CMT2 causes axonal neuropathies in which the axon is damaged, which leads to loss of strength.

Charcot-Marie-Tooth (CMT) disease affects the Peripheral Nervous System.  It is a progressive nerve disease.  Nerves weaken over time, causing progressive disability starting in the toes and fingers and working toward the center of the body.

Schwann cells form the myelin sheath in peripheral nerves by wrapping around them. Axons send chemical messages that attract Schwann cells and encourage myelin formation, and Schwann cells appear to send messages that nourish and protect axons. The genetic defects that cause Charcot-Marie-Tooth (CMT) often disrupt these interactions.

The many types of CMT are distinguished by age of onset, inheritance pattern, severity, and whether they are linked to defects in axon or myelin.

Peripheral Nerves

  • The brain and the spinal cord form the central nervous system (CNS).
  • Peripheral nerves branch out of the spinal cord out to our fingertips and toes.
  • They affect sensation, muscle strength, balance and involuntary functions like sweating.
  • They do this by carrying messages (electrical signals between the CNS to the rest of our body).

CMT 1 accounts for about 1 in 3 cases. Symptoms often appear between the ages of 5 and 25 years. Faulty, genes cause the myelin sheath to disintegrate. As the sheath wastes away, eventually the axon becomes damaged, and the patient’s muscles no longer receive clear messages from the brain. This results in muscle weakness and loss of sensation, or numbness. Fewer than 1 in 20 people will need a wheelchair.

Subtypes of CMT1 include CMT1A and CMT1B. They are caused by different genetic changes, and symptoms can vary.

CMT 2 accounts for around 17 percent of cases. The faulty gene affects the axons directly. The signals are not transmitted strongly enough to activate muscles and senses, so the individual has weaker muscles and a poorer sense of touch, or numbness.

Dejerine-Sottas disease or CMT 3 is a rare type of CMT. Damage to the myelin sheath leads to severe muscle weakness. Symptoms generally appear during childhood, and patients often need a wheelchair.

CMT X is caused by an X-chromosome mutation. It is more common in males. A female with CMT X will have mild or no symptoms.


Causes of Charcot-Marie-Tooth Disease

CMT is hereditary, so people who have close family members with CMT have a higher risk of developing it.

It affects the peripheral nerves. A peripheral nerve consists of two main parts, the axon, which is the inside of the nerve, and the myelin sheath, which is the protective layer around the axon.

CMT can affect the axon, the myelin sheath, or both, depending on the type of CMT.


Signs and Symptoms of Charcot-Marie-Tooth (CMT) Disease

Signs and symptoms of Charcot-Marie-Tooth disease may include the following:

Key Symptoms of CMT include:

  • Weakness and eventual wasting of muscles in the foot, lower leg, hand, and forearm
  • Loss of sensation in the fingers, toes, and limbs

Other symptoms may include:

  • Abnormalities in the muscles of the feet, leading to high arches and hammer toes
  • Cramping in the lower legs and forearms
  • Difficulty using the hands
  • Hearing loss
  • Reduced reflexes
  • Scoliosis
  • Vision loss 
  • Unstable ankles and problems with balance

Symptoms and their severity may vary considerably between individuals, even among close relatives who have inherited the condition.

In the early stages, patient might not know that they have CMT, because the symptoms are very mild.

Symptoms in Children

If symptoms appear during childhood the child may:

  • Be clumsier than their peers and more prone to accidents
  • Have feet that drop forward as they lift their feet
  • Unusual gait, as it is hard to lift their feet off the ground with each step

Other symptoms often appear as the child finishes puberty and enters adulthood, but they can emerge at any age, from very young to the late 70s.

In time, the leg may change shape, becoming very thin below the knee, while the thighs retain their normal muscle volume and shape.

Symptoms tend to worsen over time, and there may be:

  • Growing weakness in the hands and arms
  • Increased difficulty in using the hands, for example, to do up buttons or open jars and bottle tops
  • Muscle and joint pain, as problems with walking and posture place a strain on the body
  • Neuropathic pain due to damaged nerves
  • Walking and mobility problems, especially in older people

Assistive devices may include a wheelchair, a leg brace, special shoes, or other orthopedic devices.

Diagnosis of Charcot-Marie-Tooth (CMT) Disease

A doctor will ask about family history, and will look for evidence of muscle weakness, reduced muscle tone, flat feet, or high feet arches.

If the patient has CMT disease, they will need to see a neurologist and a geneticist for further tests.

Nerve conduction studies: These measure the strength and speed of the electrical signals that pass through the nerves. Electrodes placed on the skin, deliver tiny electric shocks that stimulate the nerves. A delayed or weak response suggests a nerve disorder, and possibly CMT.

Electromyography (EMG): This involves inserting a thin needle into the targeted muscle. As the patient relaxes or tightens the muscle, electrical activity is measured. Testing different muscles will reveal which ones are affected.

A biopsy: This involves taking a small piece of peripheral nerve from the calf, for testing in a lab.

Genetic testing: A blood sample is taken to find out whether the person carries the faulty gene or genes.

Treatment of Charcot-Marie-Tooth (CMT) Disease

There is no cure for CMT, but treatment may relieve symptoms and delay the start of physical disabilities.

Non-steroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen, can help reduce joint and muscle pain and pain caused by damaged nerves.

Tricyclic antidepressants (TCAs) may be prescribed if NSAIDs are not effective. TCAs are normally used to treat depression, but they may relieve neuropathic pain. However, they may have side effects.

Physical therapy uses low-impact exercises to help strengthen and stretch the muscles. This can help to maintain muscle strength for longer and prevent muscle tightening.

Occupational therapy may help patients who have problems with finger movements and gripping, because this can make it very hard to carry out daily activities.

Assistive devices, such as orthopedic devices, braces or splints, can help the individual stay mobile and prevent injury. Shoes with high tops or special boots provide extra ankle support, and special shoes or shoe inserts can improve gait. Thumb splints may help with dexterity.

Cognitive behavioral therapy (CBT) can help patients with CMT to cope better with everyday life and, if necessary, with depression.

Surgery to fuse bones in the feet or to remove part of a tendon can sometimes alleviate pain and make walking easier. Surgery can correct flat feet, relieve joint pain and correct heel deformities.

Patients who also have scoliosis, or curvature of the spine, may need a back brace and sometimes surgery.


Complications of Charcot-Marie-Tooth (CMT) Disease

Patients with CMT may experience a number of complications.

Breathing may be difficult if the condition affects the nerves that control the diaphragm. The patient may need bronchodilator medication or a ventilator. Being overweight or obese may make breathing worse.

Depression can result from the mental stress, anxiety, and frustration of living with a progressive disease.

Outlook of Charcot-Marie-Tooth (CMT) Disease

CMT does not usually affect a person’s lifespan, but the outlook depends on how severe the condition is.

For some people with CMT1, for example, symptoms will be so mild that they will not notice that they have the condition. Among those with CMT1, fewer that 5 percent will need to use a wheelchair.

CMT cannot be cured, but some measures may help to avoid further problems.

These include the following:

  • Taking good care of the feet, as there is an increased risk of injury and infection avoiding caffeine and tobacco
  • Limiting alcohol intake

 

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