Charcot-Marie-Tooth disease

Diseases – Charcot-Marie-Tooth Disease (CMT) | Muscular Dystrophy Association

Charcot-Marie-Tooth disease

Download our Charcot-Marie-Tooth disease (CMT) Fact Sheet

What is Charcot-Marie-Tooth disease (CMT)?

Charcot-Marie-Tooth disease (CMT) is a spectrum of nerve disorders named after the three physicians who first described it in 1886 — Jean-Martin Charcot and Pierre Marie of France and Howard Henry Tooth of the United Kingdom. The term “CMT” is regarded as being synonymous with hereditary motor sensory neuropathy (HMSN).

The overall estimated prevalence of CMT is approximately 19 instances per 100,000 people, which varies between. CMT causes damage to the peripheral nerves, which carry signals from the brain and spinal cord to the muscles and relay sensations, such as pain and touch, to the brain and spinal cord from the rest of the body. There are a number of types of CMT.

What are the symptoms of CMT?

CMT causes muscle weakness and reduction in size (atrophy), and some loss of sensation in the lower legs and feet. Sometimes the hands, wrists, and forearms are affected as well. CMT also often causes contractures (stiffened joints due to abnormal tightening of muscles and associated tissues), and sometimes, curvature of the spine (scoliosis or kyphosis).

At the severe end of the CMT spectrum, the disease can affect nerves other than those that go to and from the extremities. If the nerves that go to and from the diaphragm or intercostal (between the ribs) muscles are affected, respiratory impairment can result. For more, see Signs and Symptoms.

What causes CMT?

CMT is caused by defects in the genes that are responsible for creating and maintaining the myelin (insulating sheath around many nerves, increasing conductivity) and axonal structures.

More than 30 genes have been implicated in CMT, each one linked to a specific type (and in many cases, more than one type) of the disease.2  The vast majority of cases are attributed to mutations in just four of these genes: PMP22, MPZ, GJB1, and MFN2. 3

CMT can be inherited in several ways: autosomal dominant (through a faulty gene contributed by either parent); autosomal recessive (through a faulty gene contributed by each parent); or X-linked (through a gene on the X chromosome contributed by either parent).4,5 For more on causes and inheritance patterns in CMT, see Causes/Inheritance.

What is the progression of CMT?

Depending on the type of CMT, onset can be from birth to adulthood, and progression is typically slow. CMT usually isn't life-threatening, and it rarely affects the brain.

What is the status of research on CMT?

CMT research is focused on exploring the effects of defects in genes related to the peripheral nervous system and devising strategies to combat these effects.

References

  1. Understanding Neuromuscular Disease Care. IQVIA Institute. Parsippany, NJ. (2018).
  2. Klein, C. J., Duan, X. & Shy, M. E. Inherited neuropathies: Clinical overview and update. Muscle and Nerve (2013). doi:10.1002/mus.23775
  3. Saporta, A. S. D. et al. Charcot-marie-tooth disease subtypes and genetic testing strategies. Ann. Neurol. (2011). doi:10.1002/ana.22166
  4. Hahn, A. F., Brown, W. F., Koopman, W. J. & Feasby, T. E. X-linked dominant hereditary motor and sensory neuropathy. Brain (1990). doi:10.1093/brain/113.5.1511
  5. Tazir, M., Bellatache, M., Nouioua, S. & Vallat, J. M. Autosomal recessive Charcot-Marie-Tooth disease: From genes to phenotypes. Journal of the Peripheral Nervous System (2013). doi:10.1111/jns5.12026

Source: https://www.mda.org/disease/charcot-marie-tooth

Charcot-Marie-Tooth Disease – NORD (National Organization for Rare Disorders)

Charcot-Marie-Tooth disease

CMT disease can be inherited in an autosomal dominant, autosomal recessive or X-linked dominant manner.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.

The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier the parents is 50% with each pregnancy.

The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease.

The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual.

The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

X-linked dominant genetic disorders are caused by an abnormal gene on the X chromosome. Females with an abnormal gene are affected with the disease. Males with an abnormal gene are more severely affected than females.

CMT hereditary neuropathy is subdivided into several types termed CMT1, CMT2, CMT3, CMT4 and CMTX.

CMT1 is the dominant form of the condition in which nerve conduction velocities are slow, and is much more common that CMT2. CMT1 is caused by abnormal genes involved in the structure and function of myelin.

CMT1 has been further subdivided into CMT1A, CMT1B, CMT1C, CMT1D, and CMT1X, specific gene abnormalities. CMT1A is caused by a duplication of the PMP22 gene that is located on chromosome 17 at 17p11.2. CMT1A is the most common type of CMT1.

CMT1B is caused by an abnormality in the MPZ gene located on chromosome 1 at 1q22. CMT1C is caused by an abnormality in the SIMPLE gene located on chromosome 16 at 16p13.1-p12.3. CMT1D is caused by an abnormality in the EGR2 gene located on chromosome 10 at 10q21.1-q22.1.

CMT1X is caused by mutations in GJB1 (located at Xq13.1), the gene that encodes the gap junction protein connexin32. Rarer subtypes of CMT1 may yet be found.

CMT2 is an autosomal dominant form of the condition in which nerve conduction velocities are usually normal or slightly slower than normal. CMT2 is caused by abnormal genes involved in the structure and function of axons.

CMT2 has been further subdivided into CMT2A – 2L mutations in specific genes. CMT2A, is the most common, and is caused by mutations in the MFN2 gene located on chromosome 1 at 1p36.2. CMT2B is caused by mutations in the RAB7 gene located on chromosome 3 at 3q21.

CMT2C is caused by an unknown gene located on chromosome 12 at 12q23-34. CMT2D is caused by mutations in the GARS gene located on chromosome 7 at 7p15. CMT2E is caused by mutations in the NEFL gene located on chromosome 8 at 8p21.

CMT2F is caused by mutations in the HSPB1 gene. CMT2L is caused by mutations in the HSPB8 gene.

Dominant Intermediate CMT (DI-CMT) is so named owing to their “intermediate” conduction velocities and thus an uncertainty regarding whether the neuropathy is primarily axonal or demyelinating. Dominant mutations in DMN2 and YARS are known to cause this phenotype.

CMT3, also called Dejerine-Sottas disease, is no longer a useful genetic designation because individuals with this condition have been found to have a gene mutation in one of the genes responsible for CMT1A, CMT1B, CMT1D or CMT4.

CMT4 is an autosomal recessive form of the condition. It has been further subdivided into CMT4A, CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E and CMT4F. CMT4A is caused by an abnormality in the GDAP1 gene located on chromosome 8 at 8q13-q21. CMT4B1 is caused by an abnormality in the MTMR2 gene located on chromosome 11 at 11q22.

CMT4B2 is caused by an abnormality in the SBF2/MTMR13 gene located on chromosome 11 at 11p15. CMT4C is caused by an abnormality in the KIAA1985 gene located on chromosome 5 at 5q32. CMT4D is caused by an abnormality in the NDRG1 gene located on chromosome 8 at 8q24.3.

CMT4E, also known as congenital hypomyelination neuropathy, is caused by an abnormality in the EGR2 gene located on chromosome 10 at 10q21.1-q22.1. CMT4F is caused by an abnormality in the PRX gene located on chromosome 19 at 19q13.1-q13.2. CMT4H is caused by an abnormality in the FDG4 gene. CMT4J is caused by an abnormality in the FIG4 gene.

Most cases of CMT2 are not caused by mutations in these genes, however, so that many genetic causes remain to be discovered.

CMTX is an X-linked dominant form of the condition. CMT1X accounts for approximately 90% of CMTX. The specific gene(s) responsible for the remaining 10% of individuals with CMTX have not yet been identified.

Autosomal recessive CMT2 is caused by mutations in LMNA and GDAP1.

Source: https://rarediseases.org/rare-diseases/charcot-marie-tooth-disease/

What is CMT? – Charcot–Marie–Tooth Association

Charcot-Marie-Tooth disease

Download/print: What is CMT? One-pager or What is CMT? Full Brochure

What are the Symptoms of CMT?

The foot of a person with CMT. The lack of muscle, a high arch, and claw toes are signs of this genetic disease.

First signs may include toe-walking, frequent tripping, ankle sprains, clumsiness and “burning” or pins-and-needles sensations in the feet or hands.

Structural foot deformities such as high arches and hammertoes are common, but some people have flat feet.

Foot drop, poor balance and problems walking as muscle wasting in the lower legs and feet progresses.

Difficulty with tasks involving manual dexterity, such as writing and manipulating zippers and buttons, often accompanies muscular wasting in the hands.

Abnormal sensation, loss of ability to feel light touch, inability to differentiate between hot/cold, and the loss of proprioception or the inability to sense where one’s body is in space are also common, and many people experience neuropathic, muscle or joint pain.

Poor tolerance for cool, cold and/or hot temperatures is typical. Many people have chronically cold hands and feet.

Additional symptoms may include flexed fingers, contractures, tremor, knee and/or hip problems, cramps, thenar muscle atrophy (weakness of the muscles between the thumb and forefinger), muscle weakness and loss of hand strength, chronic fatigue, sleep apnea, breathing difficulties, swallowing difficulties, absent or reduced reflexes, poor circulation, scoliosis, kyphosis and hearing loss.

The psychological impact of having CMT can be devastating, leading to irritability, depression, anxiety, isolation, loss of pleasure, weight gain or loss, and feelings of hopelessness, worthlessness or guilt.

If you are having suicidal thoughts, immediately call your local suicide hotline or the National Suicide Prevention Lifeline: 1-800-273-TALK (1-800-273-8255), or seek help right away at a local emergency room.

A CMT diagnosis involves a clinical evaluation of muscle function and atrophy, testing of sensory responses, and electromyographic and nerve conduction studies. Many types of CMT can also be diagnosed by genetic testing. Click here for more information on diagnosing CMT.

Is there a Treatment for CMT?

Although there is no drug treatment for CMT, physical/occupational therapy band moderate activity (but not overexertion) can help maintain muscle strength, endurance and flexibility.

Mechanical supports AFOs (ankle-foot orthoses) and custom-made shoes can improve gait and balance. When medically indicated, orthopedic surgery can correct deformity and help maintain mobility and function.

Occupational therapy and adaptive devices can help people perform activities of daily living.

Any medications people with CMT should avoid?

YES! Some medications are potentially toxic to people with CMT.

Vincristine has been proven hazardous and should be avoided by all CMT patients. Taxols also pose a high risk to people with CMT. The complete list of potentially neurotoxic medications can be viewed here. Before taking any medication or changing medications, be sure your physician is fully aware of your medical condition, and discuss any possible side effects they may have on CMT.

Have a drug/medication question? Visit www.cmtausa.org/medquest or email asktheexpert@cmtausa.org.

Source: https://www.cmtausa.org/understanding-cmt/what-is-cmt/

Charcot-Marie-Tooth Disease: Background, Pathophysiology, Etiology

Charcot-Marie-Tooth disease

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Source: https://emedicine.medscape.com/article/1232386-overview

Articles

Charcot-Marie-Tooth disease
ABOUT CAUSES DIAGNOSIS TREATMENT

Charcot-Marie-Tooth (CMT) disease is an inherited nerve problem. It causes abnormalities in the nerves that supply your feet, legs, hands, and arms. It affects both your motor and sensory nerves.

Motor nerves carry signals from your brain to your muscles, telling them to move. Sensory nerves carry sensations, such as heat, cold, and pain back to your brain.

CMT is considered a peripheral neuropathy because it affects nerves outside of your brain and spinal cord.

This disease is named after the 3 doctors who first described the disease in 1886. It is one of the most common types of inherited nerve diseases.

CMT is almost always caused by a gene problem inherited from one or both parents.

The genetic information that one or both of your parents passes on to you determines the type of gene change (mutation) you have.

This gene mutation determines what symptoms you have and how old you are when they start. There are more 30 known genetic causes of CMT. The exact cause of many more forms has yet to be identified.

Some genetic problems affect the axon. This is the part of the nerve that sends signals to other nerves. Other genetic problems affect the protective lining around the axon (myelin sheath). Either type of problem can lead to long-term damage of the nerve and affect its ability to send signals.

CMT symptoms may vary from person to person, though they usually start in your feet and legs. Over time, the disease may also affect your hands and arms. Symptoms usually first appear in teens and young adults.

Common symptoms include:

  • Weakness of your foot and lower leg muscles
  • Foot deformities, including a high arch and bent toes (hammer toes)
  • Difficulty lifting your foot while walking (foot drop)
  • Loss of muscle around your hands and feet
  • Numbness, tingling, burning, or loss of temperature sensation in your hands and feet
  • Discomfort or pain in your hands and feet

A specialist called a neurologist may diagnose CMT after doing a complete nervous system exam and asking about your family history. Tests that help make the diagnosis include:

  • A blood test to look for genetic problems
  • Nerve conduction studies to measure the strength and speed of electrical signals passing through your nerves
  • Electromyography to measure how well your nerves communicate with your muscles
  • Nerve biopsy. This means taking a small piece of a nerve and looking at it under a microscope. This is often done if blood work can't find the genetic cause of the symptoms

If you have no family history of this disease, your healthcare provider may consider looking for other causes of your symptoms.

There is no cure for CMT. But these treatments can help:

  • Physical therapy to strengthen and stretch your muscles. This may help prevent or delay disability caused by weakness and deformity.
  • Occupational therapy to help with your daily activities. This includes using special devices rubber grips, or changing from buttons and zippers to Velcro.
  • Orthopedic devices ankle braces, high-top boots, and thumb splints.
  • Pain medicines if needed.

CMT is not a fatal disease. Most people with it live to a normal age and remain active. In rare cases, it may affect the muscles you need to breathe. Because this can be especially dangerous at night, you may need a nighttime breathing assistive device.

More common complications are:

  • Injuries from falls
  • Worsening of the disease that certain medicines can cause
  • Injuries or infections of the feet that go unnoticed because of lack of pain and temperature sensation

It is very important to learn as much as you can about your disease. Work closely with your neurologist. Genetic counseling may be important for family planning. Other ways to manage your disease include:

  • Getting regular low-impact aerobic exercise
  • Not drinking alcohol except in moderation
  • Eating a healthy diet and staying at at a healthy weight
  • Checking your feet regularly for any injury or infection
  • Checking with your healthcare provider before taking any new medicines. Certain medicines can make your symptoms worse.

Call your healthcare provider if you have:

  • Any new or worsening symptoms
  • Signs of foot injury or infection
  • Trouble breathing

Key points Charcot-Marie-Tooth disease

  • Charcot-Marie-Tooth disease is an inherited disorder. It affects the nerves supplying the feet, legs, hands, and arms. It is caused by gene defects that are nearly always inherited from a person's parents.
  • Symptoms often begin in the teen or early adult years. They can include weakness in the feet and legs and foot deformities.

    Over time, the hands and arms might be affected as well.

  • Charcot-Marie-Tooth can't be cured at this time. But treatments such as physical and occupational therapy can often be very helpful. Most people with this condition live to a normal age and remain active.

Tips to help you get the most from a visit to your healthcare provider:

  • Know the reason for your visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • Bring someone with you to help you ask questions and remember what your provider tells you.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you.
  • Know why a new medicine or treatment is prescribed, and how it will help you. Also know what the side effects are.
  • Ask if your condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if you do not take the medicine or have the test or procedure.
  • If you have a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your provider if you have questions.

Source: https://www.cedars-sinai.org/health-library/diseases-and-conditions/c/charcot-marie-tooth-disease.html

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