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Introduction and Orientation to Charcot-Marie-Tooth Disease (CMT)

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Charcot-Marie-Tooth disease (CMT) is a slowly progressive inherited peripheral neuropathy. While it causes muscle weakness and sensory loss, most patients have a normal life expectancy and can effectively manage symptoms with physical therapy and orthotics.

Key Takeaways

  • • CMT is a common inherited disease of the peripheral nerves, affecting how signals travel between the brain and the limbs.
  • • The disease progresses very slowly over decades and does not impact life expectancy for the vast majority of people.
  • • CMT Type 1 damages the protective myelin sheath around nerves, while Type 2 affects the internal nerve axon.
  • • Symptoms typically begin in the feet and legs before potentially affecting the hands and arms.
  • • Physical therapy, occupational therapy, and orthotics are highly effective at managing symptoms and maintaining mobility.

Getting a diagnosis of Charcot-Marie-Tooth disease (CMT) can feel like a whirlwind of emotions. For some, it is a moment of profound relief—a “name” for years of unexplained clumsiness, frequent tripping, or high foot arches [1][2]. For others, it may feel like a sudden and frightening shift in how they view their future health.

Regardless of how you feel today, the most important thing to know is that while CMT is a lifelong condition, it is usually manageable, and most people with CMT live a full, normal lifespan [3][4].

What is CMT?

CMT, also known as Hereditary Motor and Sensory Neuropathy (HMSN), is the most common inherited disease of the peripheral nerves—the “wiring” that connects your brain and spinal cord to the rest of your body [1][5]. It affects approximately 1 in 2,500 people worldwide [1][6].

Because it is a progressive condition, symptoms often start slowly, usually beginning in the feet and legs before potentially affecting the hands and arms [1][2].

Understanding the “Wiring”

To understand CMT, it helps to think of your nerves like electrical cables. There are two main ways the “cable” can be damaged in CMT:

  • CMT Type 1 (Demyelinating): This affects the myelin, which is the protective insulation around the nerve [7][8]. When the insulation is damaged, the electrical signals travel too slowly, leading to muscle weakness and loss of sensation [9][8].
  • CMT Type 2 (Axonal): This affects the axon, which is the actual copper wire inside the cable [7][9]. In this type, the signal speed might be normal, but the signal itself is too weak because the wire is damaged or breaking down [10][11].

Three Stabilizing Facts

If you are currently in a “panic spiral,” keep these three facts in mind:

  1. Normal Life Expectancy: For the vast majority of people, CMT does not affect how long you will live [3][4]. It is a disease of physical function, not a fatal condition.
  2. Slow Progression: CMT usually moves very slowly over decades [1][4]. You are unlikely to wake up one day and suddenly lose your ability to walk; changes happen gradually, allowing you and your care team time to adapt.
  3. Active Management Works: While there is currently no cure, there are highly effective ways to manage the symptoms. Physical therapy, orthotics (like custom shoe inserts or braces), and occupational therapy can significantly improve mobility and quality of life [12][1][11].

Moving Forward

CMT is a highly “heterogeneous” disease, meaning it looks different for everyone—even members of the same family [13][14]. Your experience will be unique to your specific genetic mutation and lifestyle. By working closely with a neurologist and a specialized care team, you can build a plan to stay active and mobile for as long as possible [1][15]. Joining a patient advocacy group can provide valuable peer support. Excellent resources include the Charcot-Marie-Tooth Association (CMTA) and the Hereditary Neuropathy Foundation (HNF) [15].

Frequently Asked Questions

What is Charcot-Marie-Tooth disease (CMT)?
CMT is an inherited disorder that damages the peripheral nerves, which connect your brain and spinal cord to the rest of your body. It causes progressive muscle weakness and loss of sensation, usually starting in the feet and legs.
Does Charcot-Marie-Tooth disease affect life expectancy?
For the vast majority of people, Charcot-Marie-Tooth disease does not affect life expectancy. It is a condition that impacts physical function and mobility over time, but it is not a fatal disease.
What is the difference between CMT Type 1 and Type 2?
CMT Type 1 damages the protective myelin sheath around the nerves, causing electrical signals to travel too slowly. CMT Type 2 affects the nerve axon itself, resulting in a weak signal even though the speed may be normal.
What are the best ways to manage CMT symptoms?
While there is currently no cure for CMT, symptoms can be actively managed. Standard treatments include physical therapy, occupational therapy, and orthotics like custom shoe inserts or braces to improve mobility and safety.
How quickly does CMT progress?
CMT typically progresses very slowly over decades. Changes to mobility and strength happen gradually, which gives you and your healthcare team time to adapt and adjust your symptom management plan.

Questions for Your Doctor

  • • Based on my initial exam, what is the most likely timeframe for figuring out my specific subtype?
  • • Can you recommend a multidisciplinary CMT clinic or a specialist who focuses specifically on neuromuscular diseases?
  • • What are the top three things I should focus on this month to start actively managing my symptoms?

Questions for You

  • • How do I feel about this diagnosis? Is it more of a relief to have an answer, or does it feel overwhelming right now?
  • • What daily activities are currently the most challenging for me because of my balance or strength?
  • • Do I have a strong support system in place, or should I consider joining a patient advocacy group like the CMTA or HNF?

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References

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    Impact of Customized and Sustained Physiotherapy in Charcot-Marie-Tooth Disease.

    Chitapure T, Jethwani D, Zubair Ahmed S, Panigrahy C

    Cureus 2021; (13(8)):e17201 doi:10.7759/cureus.17201.

    PMID: 34540429
  2. 2

    Patient-Reported Symptom Burden of Charcot-Marie-Tooth Disease Type 1A: Findings From an Observational Digital Lifestyle Study.

    Thomas FP, Saporta MA, Attarian S, et al.

    Journal of clinical neuromuscular disease 2022; (24(1)):7-17 doi:10.1097/CND.0000000000000426.

    PMID: 36005469
  3. 3

    The Impact of a Late Diagnosis: A Case of Charcot-Marie-Tooth Type 1.

    Albuquerque F, Cunha D, Rodrigues AC, et al.

    Cureus 2023; (15(1)):e33727 doi:10.7759/cureus.33727.

    PMID: 36788827
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    Re-survey of 16 Japanese patients with advanced-stage hereditary motor sensory neuropathy with proximal dominant involvement (HMSN-P): Painful muscle cramps for early diagnosis.

    Shoji H, Sakamoto R, Saito C, et al.

    Intractable & rare diseases research 2023; (12(3)):198-201 doi:10.5582/irdr.2023.01051.

    PMID: 37662623
  5. 5

    Charcot-Marie-Tooth disease: from historical landmarks in Brazil to current care perspectives.

    Cavalcanti EBU, Leal RCC, Marques Junior W, Nascimento OJMD

    Arquivos de neuro-psiquiatria 2023; (81(10)):913-921 doi:10.1055/s-0043-1770348.

    PMID: 37611635
  6. 6

    Charcot neuroarthropathy in patients with Charcot Marie Tooth Disease.

    Singh D, Gray J, Laura M, Reilly MM

    Foot and ankle surgery : official journal of the European Society of Foot and Ankle Surgeons 2021; (27(8)):865-868 doi:10.1016/j.fas.2020.11.005.

    PMID: 33272751
  7. 7

    Gene therapy approaches targeting Schwann cells for demyelinating neuropathies.

    Sargiannidou I, Kagiava A, Kleopa KA

    Brain research 2020; (1728()):146572 doi:10.1016/j.brainres.2019.146572.

    PMID: 31790684
  8. 8

    Therapeutic Development in Charcot Marie Tooth Type 1 Disease.

    Miniou P, Fontes M

    International journal of molecular sciences 2021; (22(13)) doi:10.3390/ijms22136755.

    PMID: 34201736
  9. 9

    Mechanisms and treatment strategies of demyelinating and dysmyelinating Charcot-Marie-Tooth disease.

    Hertzog N, Jacob C

    Neural regeneration research 2023; (18(9)):1931-1939 doi:10.4103/1673-5374.367834.

    PMID: 36926710
  10. 10

    A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease.

    Sabblah TT, Nandini S, Ledray AP, et al.

    Scientific reports 2018; (8(1)):1739 doi:10.1038/s41598-018-20081-1.

    PMID: 29379136
  11. 11

    Changes in walking velocity and stride parameters with age in children with Charcot-Marie-Tooth disease.

    Õunpuu S, Pierz KA, Acsadi G, Wren TAL

    Neuromuscular disorders : NMD 2020; (30(10)):825-832 doi:10.1016/j.nmd.2020.08.359.

    PMID: 32928646
  12. 12

    The Role of Rehabilitation in the Management of Patients with Charcot-Marie-Tooth Disease: Report of Two Cases.

    Dimitrova EN, Božinovikj I, Ristovska S, et al.

    Open access Macedonian journal of medical sciences 2016; (4(3)):443-448 doi:10.3889/oamjms.2016.079.

    PMID: 27703571
  13. 13

    [Charcot-Marie-Tooth Disease: Historical Evolution and Present Understanding].

    Yano C, Takashima H

    Brain and nerve = Shinkei kenkyu no shinpo 2025; (77(11)):1176-1184 doi:10.11477/mf.188160960770111176.

    PMID: 41233175
  14. 14

    Phenotypic convergence in Charcot-Marie-Tooth 2Y with novel VCP mutation.

    Gite J, Milko E, Brady L, Baker SK

    Neuromuscular disorders : NMD 2020; (30(3)):232-235 doi:10.1016/j.nmd.2020.02.002.

    PMID: 32165109
  15. 15

    Understanding medication safety and Charcot-Marie-Tooth disease: a patient perspective.

    Socha Hernandez AV, Deeks LS, Shield AJ

    International journal of clinical pharmacy 2020; (42(6)):1507-1514 doi:10.1007/s11096-020-01123-z.

    PMID: 32804316

This page provides an educational overview of Charcot-Marie-Tooth disease. It is not a substitute for professional medical advice, diagnosis, or treatment from your neurologist or specialized care team.

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