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PubMed This is a summary of 60 peer-reviewed journal articles Updated
Neurology

Understanding Charcot-Marie-Tooth Disease Type 1A (CMT1A)

At a Glance

Charcot-Marie-Tooth disease type 1A (CMT1A) is a slowly progressive genetic nerve condition caused by a duplication of the PMP22 gene. It causes muscle weakness and sensory changes in the hands and feet. While there is no cure, physical therapy and bracing can greatly improve mobility.

Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common form of hereditary peripheral neuropathy, affecting approximately 1 in 2,500 people [1][2]. Being diagnosed with a genetic nerve condition can be overwhelming, but understanding the disease is your first and most powerful tool for managing it.

CMT1A is a slowly progressive condition that affects the peripheral nerves—the “wires” that connect your brain and spinal cord to your muscles and sensory organs. It is fundamentally caused by a duplication of the PMP22 gene, which leads to damage of the myelin (the protective insulation) around these nerves [3]. Over time, this disruption leads to symptoms such as muscle weakness in the hands and feet, foot deformities like high arches (pes cavus), and changes in sensation [4].

While there is currently no cure, proactive management through multidisciplinary care, physical therapy, and appropriate bracing can significantly improve your mobility and quality of life [5]. Furthermore, dedicated clinical research is underway to target the genetic root of the disease, providing hope for future therapies [6].

This guide is designed to help you understand the biology of your diagnosis, avoid common medical pitfalls like misdiagnoses or neurotoxic medications, and prepare you for productive, empowering conversations with your care team.

01

The Biology of CMT1A: Symptoms and Causes

Learn about Charcot-Marie-Tooth disease type 1A (CMT1A). Understand the PMP22 gene duplication, how demyelination causes symptoms, and family planning options.

02

Getting the Right Diagnosis: Testing and Accuracy

Learn how Charcot-Marie-Tooth type 1A (CMT1A) is diagnosed. Understand NCV test results, the PMP22 genetic test, and how to avoid a CIDP misdiagnosis.

03

Supportive Care and Surgical Options

Explore supportive care and surgical options for CMT1A. Learn about multidisciplinary teams, AFO bracing, foot deformity surgery, and metabolic health.

04

Monitoring Progression and Staging

Learn how doctors track Charcot-Marie-Tooth disease type 1A (CMT1A) progression. Understand CMTNS scores, MRI muscle fat fraction, and monitoring schedules.

05

Living with CMT1A and Looking Toward the Future

Learn how to manage daily life with CMT1A. Understand strategies for fatigue and pain, plus discover the latest research on PMP22-targeting therapies.

Common questions in this guide

What is Charcot-Marie-Tooth disease type 1A?
CMT1A is the most common form of hereditary peripheral neuropathy. It is a slowly progressive genetic condition that damages the myelin, which is the protective insulation around your peripheral nerves.
What are the common symptoms of CMT1A?
Common symptoms include muscle weakness in the hands and feet, changes in sensation, and foot deformities such as abnormally high arches, which are medically known as pes cavus.
What causes CMT1A?
The condition is caused by a genetic mutation, specifically a duplication of the PMP22 gene. This genetic change disrupts the protective coating around your nerves, affecting how they communicate with your muscles and sensory organs.
Should my family members be tested for CMT1A?
Because CMT1A is a hereditary condition, it can be passed down in families. You should discuss genetic counseling and testing with your doctor to understand the risks for your family members and for family planning.
How is CMT1A treated?
While there is currently no cure, you can manage the condition proactively. This includes participating in physical therapy, using appropriate bracing to maintain mobility, and strictly avoiding certain neurotoxic medications that can further damage your nerves.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Are there dedicated CMT clinics or Centers of Excellence near me?
  2. 2.How do I build a comprehensive care team that understands the nuances of CMT1A?
  3. 3.Should my family members consider genetic counseling or testing based on my diagnosis?
  4. 4.What are the first steps I should take to protect my nerve function from other potential threats, like neurotoxic medications?

Questions For You

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

References

References (6)
  1. 1

    Synergistic effect of Wharton's jelly-derived mesenchymal stem cells and insulin on Schwann cell proliferation in Charcot-Marie-Tooth disease type 1A treatment.

    Oh SJ, Kim H, Park SE, et al.

    Neurobiology of disease 2024; (203()):106725 doi:10.1016/j.nbd.2024.106725.

    PMID: 39536952
  2. 2

    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
  3. 3

    Antisense oligonucleotides offer hope to patients with Charcot-Marie-Tooth disease type 1A.

    Shy ME

    The Journal of clinical investigation 2018; (128(1)):110-112.

    PMID: 29199996
  4. 4

    Walking Speed Is Correlated With the Isokinetic Muscular Strength of the Knee in Patients With Charcot-Marie-Tooth Type 1A.

    Reynaud V, Morel C, Givron P, et al.

    American journal of physical medicine & rehabilitation 2019; (98(5)):422-425 doi:10.1097/PHM.0000000000001084.

    PMID: 30365400
  5. 5

    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
  6. 6

    A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.

    Attarian S, Young P, Brannagan TH, et al.

    Orphanet journal of rare diseases 2021; (16(1)):433 doi:10.1186/s13023-021-02040-8.

    PMID: 34656144

This page provides educational information about Charcot-Marie-Tooth disease type 1A (CMT1A). Always consult your neurologist or a specialized CMT care center for medical advice tailored to your specific condition and before starting any new treatments.

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