Charcot-Marie-Tooth disease, also known as hereditary motor and sensory neuropathy is a group of conditions that affect the nervous system. In particular, the peripheral nerves (nerves outside the brain or spinal cord) that control sensation and movement are damaged. This leads to progressive weakness and muscle wasting of the legs and arms.

Below on this page is some information about this condition as well as links to useful resources for Australians living with a rare disease.

Synonyms: CMT, hereditary motor and sensory neuropathy (HSN), CMT/HMSN, Charcot-Marie-Tooth hereditary neuropathy, Charcot-Marie-Tooth muscular atrophy, peroneal muscular atrophy.

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

ICD-11: 8C20 Hereditary motor and sensory neuropathy

Rare diseases typically display a high level of symptom complexity. There is often a wide range of symptoms and the symptoms may vary between individuals in terms of its presentation, severity, duration and impact.

Please speak to your medical team to learn more about the symptoms of this condition.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Charcot-Marie-Tooth disease (CMT) are genetic conditions. More than 80 different genes have been identified to cause CMT so far. CMT are usually inherited (passed down from parents). Different patterns of inheritance such as autosomal dominant, autosomal recessive and X-linked have been observed in different types of CMT. More information about inheritance patterns can be found at Centre for Genetics Education: Autosomal dominant inheritance, Autosomal recessive inheritance,  X-linked inheritance.

In some cases, CMT are not inherited, and their genetic changes (variants) occur randomly prior to birth (de novo).

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

A timely diagnosis is critical for better patient outcomes, the provision of the best possible care and treatment options, access to services and support, increased reproductive confidence and the ability to participate in clinical trials.

Please speak to your medical team to learn more about the available diagnostic pathways for this condition.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Healthcare professionals involved in the treatment of CMT may include general practitioners (GP), paediatricians, neurologists, orthopaedic surgeons, physiatrists, physical therapists, occupational therapists. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinic:

Peripheral Neuropathy Management Clinic, The Children’s Hospital at Westmead (NSW)

Website: https://www.schn.health.nsw.gov.au/neurology-childrens-hospital-westmead

This clinic includes neurologists, allied health professionals, orthopaedic surgeons, rehabilitation paediatricians and research staff who are experts in CMT. The clinic has been identified as an international centre of excellence by the Charcot-Marie-Tooth Association of USA and partners closely with Charcot-Marie-Tooth Australia.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

For many rare diseases, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. Palliative care is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. For more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

Healthcare professionals involved in the treatment of CMT may include general practitioners (GP), paediatricians, neurologists, orthopaedic surgeons, physiatrists, physical therapists, occupational therapists. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinic:

Peripheral Neuropathy Management Clinic, The Children’s Hospital at Westmead (NSW)

Website: https://www.schn.health.nsw.gov.au/neurology-childrens-hospital-westmead

This clinic includes neurologists, allied health professionals, orthopaedic surgeons, rehabilitation paediatricians and research staff who are experts in CMT. The clinic has been identified as an international centre of excellence by the Charcot-Marie-Tooth Association of USA and partners closely with Charcot-Marie-Tooth Australia.

If you know of any relevant care guidelines, please let us know via the Contribute page.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

If you know of any relevant emergency management guidelines or information relevant to emergency care, please let us know via the Contribute page.

The Neuropathy Research Group (NRG) at The University of Sydney and The Children’s Hospital at Westmead aims to improve the lives of children and adults living with Charcot-Marie-Tooth disease through neuropathy research. It comprises of clinician-researcher, scientists and families.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Australian Organisation:
Charcot-Marie-Tooth Association Australia Inc. (CMT Australia)
Website: https://cmtaustralia.org.au/

International Organisations:
Charcot-Marie-Tooth Association (United States of America)
Website: https://cmtausa.org/

Hereditary Neuropathy Foundation (United States of America)
Website: https://www.hnf-cure.org/

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

CMT vary between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

CMT Australia: Pathways Nurse Program is a free, telehealth service to help people with CMT navigate the health system.

CMT Australia: Support for Parents has guides and resources for parents of children with CMT, or for parents with CMT.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on CMT can be found at:

• Healthdirect: Charcot-Marie-Tooth disease
• Better Health Channel: Charcot-Marie-Tooth disease
• Genetic and Rare Diseases (GARD) Information Center: Charcot-Marie-Tooth disease

CMT Australia: Information for health professionals

GeneReviews®: Charcot-Marie-Tooth Hereditary Neuropathy Overview

StatPearls: Charcot-Marie-Tooth Disease

Orphanet: Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team. If you would like to see more information added to this page, please reach out via the Contact form. If you would like to share relevant resources for this condition, please visit the Contribute page.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.