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PubMed This is a summary of 24 peer-reviewed journal articles Updated
Medical Genetics · Charcot-Marie-Tooth Disease

Is Charcot-Marie-Tooth (CMT) Disease Hereditary?

At a Glance

Charcot-Marie-Tooth (CMT) disease is hereditary and caused by genetic mutations passed down from parents. The exact chance of passing it on depends on your specific genetic subtype, making genetic testing crucial for accurate family planning.

In this answer

3 sections

01

How is CMT Passed Down? (Inheritance Patterns)

02

When There Is No Family History

03

The Importance of Knowing Your Genetic Subtype

Yes, Charcot-Marie-Tooth disease (CMT) is hereditary, meaning it is caused by genetic changes (mutations) that can be passed down from parents to their children [1][2]. While CMT is a chronic condition, it is generally not life-threatening. If you have CMT, there is a possibility that your children could inherit it. However, the exact chance of passing it on depends entirely on the specific genetic subtype of CMT you have [3][4]. Because CMT is a diverse group of disorders, how it is inherited can vary significantly from family to family [5].

How is CMT Passed Down? (Inheritance Patterns)

CMT can be inherited in three main ways. Your risk of passing the condition to your children depends on which pattern applies to your specific subtype:

  • Autosomal Dominant Inheritance: This is the most common way CMT is passed down. In this pattern, you only need one copy of the altered gene to have the condition. If one parent has an autosomal dominant form of CMT, each child has a 50% chance of inheriting the gene and the disease [5][6].
  • Autosomal Recessive Inheritance: In this pattern, a person must inherit two copies of the altered gene (one from each parent) to develop the disease. If both parents are carriers (meaning they have one altered gene but usually no symptoms), each pregnancy has a 25% chance that the child will inherit both genes and have CMT [7][8].
  • X-Linked Inheritance: This form of CMT is linked to the X chromosome, which determines biological sex. The inheritance pattern depends on which parent has the condition [9]. Males who inherit X-linked CMT typically experience earlier and much more severe symptoms than females [10][11][12].
    • If the father has X-linked CMT, he will pass the altered gene to all of his daughters, but none of his sons [9].
    • If the mother has X-linked CMT, each child (whether a boy or a girl) has a 50% chance of inheriting the gene [9].

When There Is No Family History

Sometimes, a person might be diagnosed with CMT even though no one else in their family has it. In many of these cases, the genetic change occurred spontaneously during the formation of the egg or sperm [13]. This is known as a de novo mutation [13][14]. Even though the mutation wasn’t inherited from the parents, the person who has it can still pass it on to their future children.

Another reason CMT might seem to appear out of nowhere is due to varying symptoms (variable expressivity) and the fact that some gene carriers show no signs at all (incomplete penetrance) [15][16]. This means that some people who inherit the disease-causing gene might have very mild symptoms that go completely unnoticed, while others with the exact same genetic change might experience much more noticeable physical weakness [17].

The Importance of Knowing Your Genetic Subtype

Because clinical severity, age of onset, and disease progression vary substantially between the different genetic subtypes, knowing your exact subtype is crucial [18][17][16]. Identifying the specific gene involved allows for:

  • Accurate Family Planning: Understanding your exact recurrence risk (whether it’s 50%, 25%, or depends on sex) allows you to make fully informed decisions about having children [3][4].
  • Preventive Options: If your specific genetic mutation is known, you have options to prevent passing the disease to your children. One such option is Preimplantation Genetic Testing (PGT) used during In Vitro Fertilization (IVF), which allows doctors to select and transfer embryos that do not carry the CMT mutation [19][20].
  • Understanding What to Expect: A genetic counselor can help you understand what your specific mutation means for your future children’s health and potential symptoms [3].
  • Pregnancy Management: Some women with CMT experience worsening physical symptoms during pregnancy, making pre-conception counseling important for anticipating how the condition might affect your daily life and mobility during those nine months [21][22].

If you haven’t had genetic testing, speaking with a genetic counselor or neurologist is a valuable next step. They can help confirm your exact genetic type, which is essential for accurately assessing risks for your family [3][23][24].

Common questions in this guide

Is Charcot-Marie-Tooth disease hereditary?
Yes, Charcot-Marie-Tooth disease is hereditary. It is caused by genetic mutations that are passed down from parents to their children, though the exact inheritance risk depends on the specific genetic subtype you have.
Can I have CMT if no one else in my family has it?
Yes, you can develop CMT even if no one else in your family has it. This often happens due to spontaneous genetic changes called de novo mutations, or because relatives carried the gene but had very mild, unnoticed symptoms.
What are the chances I will pass CMT to my children?
The chances of passing CMT to your children depend entirely on your specific inheritance pattern. It can range from a 50% chance in autosomal dominant forms to a 25% chance if both parents are carriers of the autosomal recessive type.
How can I prevent passing CMT to my children?
If your specific genetic mutation is known, you have options to prevent passing the disease to your children. Doctors can use Preimplantation Genetic Testing (PGT) during In Vitro Fertilization (IVF) to select and transfer embryos that do not carry the CMT mutation.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Based on my clinical evaluation, which genetic subtype of CMT is most likely, and what specific genetic tests do you recommend?
  2. 2.If my genetic test comes back positive for a specific mutation, what is the exact percentage chance I will pass it to my children?
  3. 3.Given my symptoms and family history, could my CMT be an X-linked type, and how does that change the risks for my future daughters versus sons?
  4. 4.Can you refer me to a genetic counselor who has experience with inherited neuropathies to discuss my family planning options?
  5. 5.If I become pregnant, what specific steps should my care team take to monitor my physical symptoms, mobility, and the physical demands of pregnancy?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

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References

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This page explains the hereditary patterns of Charcot-Marie-Tooth (CMT) disease for informational purposes only. Always consult a genetic counselor or neurologist to discuss your specific genetic risks and family planning options.

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