Been diagnosed with Charcot-Marie-Tooth disease – want to know what happens next?

“I was very active, certainly not the fastest person when it came to running.  And, I was ‘bumble footed’ and could easily trip over as my walking gait was not a ‘heel – toe’ action.

I went to my GP, who referred me to an Orthopaedic Specialist, who then referred me to a Neurologist. I was told that I had a neuro-muscular condition known as Charcot – Marie – Tooth Disease (named after the three doctors who discovered this disease), also known as hereditary motor and sensory neuropathy. I was advised that it was not life threatening, it is degenerative, and to get on with life!”

You may be able to relate to this, or have a similar story.

The reality of this can be summarised by these important points:

1. We should take responsibility for our CMT
2. We need to have CMT specific knowledge
3. We need to manage our CMT

We must take responsibility for our CMT

This is most significant.

The reality of the situation is that, if we don’t take responsibility for our CMT, it is most unlikely someone else will.

We need to have our own determination and drive to follow through with this important responsibility.

We need to have CMT specific knowledge

Meet Others
Being able to meet with other members of the “CMT Family” in our area is very important. This provides the opportunity to learn from, and be encouraged by others on their CMT journey.

One of the aims of CMT Australia is to provide the opportunity for people with CMT, or those caring for them, to speak with other members of our “CMT family”. This can be done by:

See Medical Professionals
We want to know who and where the appropriate medical and/or allied health professionals are to assist us.

As a person with CMT we suggest that you ask questions regarding treatments that may be prescribed for non-CMT situations. Specifically any adverse impact they may have on you due to your CMT.

Data informs us that 1 in 2500 people have CMT. This means that it is quite possible that the medical and/or allied health professional you visit may not have seen many patients (if any) who have CMT.

Questions to ask
To assist you with your appointment, we suggest you ask the following initial questions:

1. Do you know what Charcot Marie Tooth (CMT) disease is?
2. Have you previously seen a patient with CMT, or patients with a peripheral neuropathy?
3. Are you aware of the CMT Australia website and other credible CMT sites?
4. As a person with a degenerative peripheral neuropathy, is the treatment/medication you prescribe going to impact my mobility and balance, or be detrimental to my CMT?
5. I am determined to work at enhancing my quality of life and in managing my CMT. Can you suggest other medical and allied health professionals I can visit for further information that I can use to achieve this goal?

Additional questions
6. What is available to enhance my balance?
7. Who do you suggest I see to help my mobility?
8. What can I do, and who can I see to ensure I am prolonging my quality of life?
9. What does Medicare contribute towards the cost?
10. Are there aids I can get to assist my daily living?
11. Do I qualify for NDIS assistance?

Keep a folder
We strongly suggest keeping a folder so that you can take relevant notes every time you visit a medical and/or allied health professional.

We can quickly forget what may have been mentioned at each visit. Additionally, prior to your visit, make a list of questions that you want to ask your medical and/or allied health professional.

Are other members of my family likely to have this?

and what impact will this have on my children?

There may be other members in your family who are obviously impacted by CMT. Some may know this, others may be in denial, and others may not have any symptoms at all.

There are over 100 different types of genes that cause CMT. The good news is that over 80% of CMT falls into 5 main genetic categories:

  • CMT Type 1A (PMP 22 gene)
  • CMT Type 1B
  • CMT Type 2 CMT
  • Type 2A
  • CMT X Linked

We suggest that when you are told that you have CMT that you explore genetic testing to establish what type of CMT you have. This is important for future generations.

The first point of contact is your Neurologist who should be able to direct you to the appropriate organisation. The question to ask your Neurologist is: “Can you suggest a Neurogeneticist or other appropriate person I can see to have a genetic test to determine what type of CMT I have?”

Children have the benefit of a multi-disciplinary clinic located in Sydney where they can see neurological specific medical and allied health professionals during their appointment. This is:

The Institute for Neuroscience and Muscle Research,
The Children’s Hospital Westmead
Sydney NSW
Ph: 02 9845 1400

Are researchers close to finding a cure?

There is significant worldwide research collaboration and progress is being made.

The challenge is there are over 100 different types of CMT genes (and more genes are being discovered). Some types are close to having a medication trial however, comprehensive testing needs to be carried out prior to getting the all-clear to release.

In Australia, we have leading researchers and their dedicated teams who are well respected for the world-class research they are carrying out.  CMT Australia actively supports Australian research through our Research Grant program and has contributed over $300,000 to this program. 

We need to manage our CMT

Everyone is at a different stage on their CMT journey and therefore CMT management is specific to the individual. As a general starting point, lets look at the area CMT impacts the most.

Lower legs and feet

Trips and falls: See Physiotherapist, Exercise Physiologist, Podiatrist, Pedorthist

Muscle/functional core strength: See Physiotherapist, Exercise Physiologist, Podiatrist, Occupational Therapist

Foot deformity: See Podiatrist, Pedorthist, Orthopaedics

Shoes that are comfortable: Source companies that provide good quality, broad shoes to accommodate orthotics and possibly AFOs.

Musculoskeletal pain: See pain specialists

Nerve pain: See pain specialists

After other options have been explored, surgery could be considered.

Exercise has proven to be beneficial.
Doing regular appropriate exercises including balance, stretching and strengthening exercises commensurate with the specific stage of your CMT journey can make a difference to your daily quality of life.

Most important it is necessary to do prescribed exercises the right way and persevering with them to maximise the benefits.

Appropriate mobility aids
Aids such as under toe supports, orthotics, and ankle-foot-orthosis (AFOs) can be beneficial.

Medical and/or allied health professionals:

A person with CMT may want/need to visit the following medical and allied health professionals:

  • GP
  • Neurologist
  • Neurogeneticist
  • Physiotherapist
  • Pedorthist
  • Podiatrist
  • Occupational Therapist
  • Clinical Psychologist
  • Dietician
  • Career Counsellor/Advisor
  • Rehabilitation Therapist
  • Genetic Counsellor
  • Exercise Physiologist
  • Orthopaedic Surgeon
  • Hand Surgeon Pilates/Yoga

A Clinical Psychologist can give professional knowledge to equip you with the most appropriate mindset in managing your CMT.

We trust that you will find this information beneficial to assist you on your “CMT journey”.